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Protein

Potassium voltage-gated channel subfamily H member 2

Gene

KCNH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr) (PubMed:18559421, PubMed:26363003, PubMed:27916661).3 Publications
Isoform A-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.1 Publication
Isoform B-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi742 – 842cNMPAdd BLAST101

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-5576890 Phase 3 - rapid repolarisation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q12809

SIGNOR Signaling Network Open Resource

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SIGNORi
Q12809

Protein family/group databases

Transport Classification Database

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TCDBi
1.A.1.20.1 the voltage-gated ion channel (vic) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily H member 2
Alternative name(s):
Eag homolog
Ether-a-go-go-related gene potassium channel 1
Short name:
ERG-1
Short name:
Eag-related protein 1
Short name:
Ether-a-go-go-related protein 1
Short name:
H-ERG
Short name:
hERG-1
Short name:
hERG1
Voltage-gated potassium channel subunit Kv11.1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KCNH2
Synonyms:ERG, ERG1, HERG
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000055118.14

Human Gene Nomenclature Database

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HGNCi
HGNC:6251 KCNH2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
152427 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q12809

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 403CytoplasmicSequence analysisAdd BLAST403
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei404 – 424Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini425 – 450ExtracellularSequence analysisAdd BLAST26
Transmembranei451 – 471Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini472 – 495CytoplasmicSequence analysisAdd BLAST24
Transmembranei496 – 516Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini517 – 520ExtracellularSequence analysis4
Transmembranei521 – 541Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini542 – 547CytoplasmicSequence analysis6
Transmembranei548 – 568Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini569 – 611ExtracellularSequence analysisAdd BLAST43
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei612 – 632Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini633 – 638ExtracellularSequence analysis6
Transmembranei639 – 659Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini660 – 1159CytoplasmicSequence analysisAdd BLAST500

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Long QT syndrome 2 (LQT2)30 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2.
See also OMIM:613688
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07476516D → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472825EnsemblClinVar.1
Natural variantiVAR_07476620R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473486EnsemblClinVar.1
Natural variantiVAR_06824926S → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472827EnsemblClinVar.1
Natural variantiVAR_00890729F → L in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472830EnsemblClinVar.1
Natural variantiVAR_07476730I → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472832EnsemblClinVar.1
Natural variantiVAR_06825031I → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472833EnsemblClinVar.1
Natural variantiVAR_07476832A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472834EnsemblClinVar.1
Natural variantiVAR_00890833N → T in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473487EnsemblClinVar.1
Natural variantiVAR_07476941V → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472835EnsemblClinVar.1
Natural variantiVAR_07477043Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472836EnsemblClinVar.1
Natural variantiVAR_07477145N → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472839EnsemblClinVar.1
Natural variantiVAR_00990947G → V in LQT2. Corresponds to variant dbSNP:rs199473490EnsemblClinVar.1
Natural variantiVAR_07477249C → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472840EnsemblClinVar.1
Natural variantiVAR_07477353G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473491EnsemblClinVar.1
Natural variantiVAR_00890953G → R in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472842EnsemblClinVar.1
Natural variantiVAR_07477454Y → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472843EnsemblClinVar.1
Natural variantiVAR_06825155S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472844EnsemblClinVar.1
Natural variantiVAR_00891056R → Q in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472845EnsemblClinVar.1
Natural variantiVAR_07477557A → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472846EnsemblClinVar.1
Natural variantiVAR_07477658E → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472847EnsemblClinVar.1
Natural variantiVAR_07477758E → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473492EnsemblClinVar.1
Natural variantiVAR_07477858E → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472847EnsemblClinVar.1
Natural variantiVAR_07477964C → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473414EnsemblClinVar.1
Natural variantiVAR_07795364C → Y in LQT2; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs199473415EnsemblClinVar.1
Natural variantiVAR_01437165T → P in LQT2; decreased protein stability. 3 PublicationsCorresponds to variant dbSNP:rs121912511EnsemblClinVar.1
Natural variantiVAR_00891166C → G in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473416EnsemblClinVar.1
Natural variantiVAR_07478068F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473417EnsemblClinVar.1
Natural variantiVAR_07478170H → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473418EnsemblClinVar.1
Natural variantiVAR_00891270H → R in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473419EnsemblClinVar.1
Natural variantiVAR_07478271G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473420EnsemblClinVar.1
Natural variantiVAR_07478372 – 80PRTQRRAAA → RPV in LQT2; unknown pathological significance. 1 Publication9
Natural variantiVAR_07478472P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473421EnsemblClinVar.1
Natural variantiVAR_00991072P → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473421EnsemblClinVar.1
Natural variantiVAR_07478574T → M in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473422EnsemblClinVar.1
Natural variantiVAR_07478674T → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473666EnsemblClinVar.1
Natural variantiVAR_07478774T → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473422EnsemblClinVar.1
Natural variantiVAR_00891378A → P in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472848EnsemblClinVar.1
Natural variantiVAR_06825285A → V in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473494EnsemblClinVar.1
Natural variantiVAR_07478886L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472851EnsemblClinVar.1
Natural variantiVAR_00891486L → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472851EnsemblClinVar.1
Natural variantiVAR_07478994V → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472852EnsemblClinVar.1
Natural variantiVAR_036669100R → G in LQT2; digenic; the patient also carries mutation N-1819 on SCN5A. 1 PublicationCorresponds to variant dbSNP:rs121912515EnsemblClinVar.1
Natural variantiVAR_068253100R → Q in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472855EnsemblClinVar.1
Natural variantiVAR_074790100R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121912515EnsemblClinVar.1
Natural variantiVAR_074791102D → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472857EnsemblClinVar.1
Natural variantiVAR_074792106F → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472858EnsemblClinVar.1
Natural variantiVAR_074793108C → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472859EnsemblClinVar.1
Natural variantiVAR_074794114P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472861EnsemblClinVar.1
Natural variantiVAR_074795125F → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473499EnsemblClinVar.1
Natural variantiVAR_074796141P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472864EnsemblClinVar.1
Natural variantiVAR_074797149G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472865EnsemblClinVar.1
Natural variantiVAR_074798164R → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472866EnsemblClinVar.1
Natural variantiVAR_008915176R → W in LQT2. 1 PublicationCorresponds to variant dbSNP:rs36210422EnsemblClinVar.1
Natural variantiVAR_074799218M → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472869EnsemblClinVar.1
Natural variantiVAR_068254238G → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473501EnsemblClinVar.1
Natural variantiVAR_074800242R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472872EnsemblClinVar.1
Natural variantiVAR_074801251P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472873EnsemblClinVar.1
Natural variantiVAR_074802259D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472876EnsemblClinVar.1
Natural variantiVAR_074803277A → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472878EnsemblClinVar.1
Natural variantiVAR_074804291M → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472881EnsemblClinVar.1
Natural variantiVAR_074805301R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472883EnsemblClinVar.1
Natural variantiVAR_068255306G → W in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472884EnsemblClinVar.1
Natural variantiVAR_009911312R → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472885EnsemblClinVar.1
Natural variantiVAR_074806314G → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473504EnsemblClinVar.1
Natural variantiVAR_068256320S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472886EnsemblClinVar.1
Natural variantiVAR_074807323D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472887EnsemblClinVar.1
Natural variantiVAR_068257328R → C in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473505EnsemblClinVar.1
Natural variantiVAR_009912347P → S in LQT2. Corresponds to variant dbSNP:rs138776684EnsemblClinVar.1
Natural variantiVAR_074808402H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473506EnsemblClinVar.1
Natural variantiVAR_074809410W → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472892EnsemblClinVar.1
Natural variantiVAR_074684413L → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472893EnsemblClinVar.1
Natural variantiVAR_068258420Y → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473507EnsemblClinVar.1
Natural variantiVAR_068259421T → M in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472894EnsemblClinVar.1
Natural variantiVAR_068260422A → T in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472895EnsemblClinVar.1
Natural variantiVAR_074810426P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472896EnsemblClinVar.1
Natural variantiVAR_074811427Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472897EnsemblClinVar.1
Natural variantiVAR_074812427Y → H in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472898EnsemblClinVar.1
Natural variantiVAR_068261427Y → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472897EnsemblClinVar.1
Natural variantiVAR_074813428S → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472899EnsemblClinVar.1
Natural variantiVAR_074814431F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472900EnsemblClinVar.1
Natural variantiVAR_008916436T → M in LQT2. Corresponds to variant dbSNP:rs199472901EnsemblClinVar.1
Natural variantiVAR_074815440P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473509EnsemblClinVar.1
Natural variantiVAR_074685444E → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs9770044EnsemblClinVar.1
Natural variantiVAR_014373451P → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472902EnsemblClinVar.1
Natural variantiVAR_068262456D → Y in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473510EnsemblClinVar.1
Natural variantiVAR_074816460D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472903EnsemblClinVar.1
Natural variantiVAR_074817466D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473511EnsemblClinVar.1
Natural variantiVAR_008578470N → D in LQT2; aberrant protein folding increases the association of mutant KCNH2 with CANX and results in defective protein trafficking. 2 PublicationsCorresponds to variant dbSNP:rs121912505EnsemblClinVar.1
Natural variantiVAR_074818473T → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472905EnsemblClinVar.1
Natural variantiVAR_008917474T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472906EnsemblClinVar.1
Natural variantiVAR_074819475Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472907EnsemblClinVar.1
Natural variantiVAR_068263475Missing in LQT2. 1 Publication1
Natural variantiVAR_074820476V → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472908EnsemblClinVar.1
Natural variantiVAR_036671490A → T in LQT2; bradycardia-induced. 2 PublicationsCorresponds to variant dbSNP:rs28928905EnsemblClinVar.1
Natural variantiVAR_074821493Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472911EnsemblClinVar.1
Natural variantiVAR_074822493Y → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472911EnsemblClinVar.1
Natural variantiVAR_009178500 – 508Missing in LQT2. 9
Natural variantiVAR_074823501D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472912EnsemblClinVar.1
Natural variantiVAR_074824501D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472912EnsemblClinVar.1
Natural variantiVAR_036672525K → N in LQT2; located on the same allele as Pro-528. 1 PublicationCorresponds to variant dbSNP:rs199472913EnsemblClinVar.1
Natural variantiVAR_036673528R → P in LQT2; located on the same allele as Asn-525. 1 PublicationCorresponds to variant dbSNP:rs199472914EnsemblClinVar.1
Natural variantiVAR_009913531R → Q in LQT2. Corresponds to variant dbSNP:rs199473515EnsemblClinVar.1
Natural variantiVAR_074825531R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472915EnsemblClinVar.1
Natural variantiVAR_008579534R → C in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472916EnsemblClinVar.1
Natural variantiVAR_074826534R → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473516EnsemblClinVar.1
Natural variantiVAR_008918552L → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472918EnsemblClinVar.1
Natural variantiVAR_074827558A → E in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472919EnsemblClinVar.1
Natural variantiVAR_008919558A → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912516EnsemblClinVar.1
Natural variantiVAR_074686559L → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472920EnsemblClinVar.1
Natural variantiVAR_014374561A → T in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472921EnsemblClinVar.1
Natural variantiVAR_008580561A → V in LQT2; the mutation reduces wild-type channel expression. 4 PublicationsCorresponds to variant dbSNP:rs121912504EnsemblClinVar.1
Natural variantiVAR_068264562H → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472922EnsemblClinVar.1
Natural variantiVAR_074828562H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472922EnsemblClinVar.1
Natural variantiVAR_008920564L → P in LQT2. Corresponds to variant dbSNP:rs199472924EnsemblClinVar.1
Natural variantiVAR_074829565A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473518EnsemblClinVar.1
Natural variantiVAR_074830566C → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472925EnsemblClinVar.1
Natural variantiVAR_074831568W → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472927EnsemblClinVar.1
Natural variantiVAR_008921569Y → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473520EnsemblClinVar.1
Natural variantiVAR_068265571I → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472928EnsemblClinVar.1
Natural variantiVAR_074832571I → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472928EnsemblClinVar.1
Natural variantiVAR_008923572G → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs9333649EnsemblClinVar.1
Natural variantiVAR_074833572G → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473423EnsemblClinVar.1
Natural variantiVAR_008922572G → R in LQT2; severe form. 1 PublicationCorresponds to variant dbSNP:rs9333649EnsemblClinVar.1
Natural variantiVAR_068266572G → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs9333649EnsemblClinVar.1
Natural variantiVAR_074834572G → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473423EnsemblClinVar.1
Natural variantiVAR_008581582R → C in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912508EnsemblClinVar.1
Natural variantiVAR_074835582R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473426EnsemblClinVar.1
Natural variantiVAR_074836584G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473428EnsemblClinVar.1
Natural variantiVAR_008924584G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473428EnsemblClinVar.1
Natural variantiVAR_009914585W → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473430EnsemblClinVar.1
Natural variantiVAR_008925588N → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473431EnsemblClinVar.1
Natural variantiVAR_074837593I → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28928904EnsemblClinVar.1
Natural variantiVAR_008582593I → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs28928904EnsemblClinVar.1
Natural variantiVAR_009915593I → T in LQT2. Corresponds to variant dbSNP:rs28928904EnsemblClinVar.1
Natural variantiVAR_074838594G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472931EnsemblClinVar.1
Natural variantiVAR_074839596P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472933EnsemblClinVar.1
Natural variantiVAR_074840596P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472933EnsemblClinVar.1
Natural variantiVAR_068267596P → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472933EnsemblClinVar.1
Natural variantiVAR_074841597Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472934EnsemblClinVar.1
Natural variantiVAR_074842599S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472935EnsemblClinVar.1
Natural variantiVAR_074843601G → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472936EnsemblClinVar.1
Natural variantiVAR_008926601G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472936EnsemblClinVar.1
Natural variantiVAR_008927604G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473522EnsemblClinVar.1
Natural variantiVAR_074844605P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472938EnsemblClinVar.1
Natural variantiVAR_074845605P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472939EnsemblClinVar.1
Natural variantiVAR_074846609D → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472940EnsemblClinVar.1
Natural variantiVAR_074847609D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472941EnsemblClinVar.1
Natural variantiVAR_009916609D → N in LQT2. Corresponds to variant dbSNP:rs199472941EnsemblClinVar.1
Natural variantiVAR_008928611Y → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472942EnsemblClinVar.1
Natural variantiVAR_008929612V → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472943EnsemblClinVar.1
Natural variantiVAR_008930613T → M in LQT2. 4 PublicationsCorresponds to variant dbSNP:rs199473524EnsemblClinVar.1
Natural variantiVAR_008931614A → V in LQT2. 5 PublicationsCorresponds to variant dbSNP:rs199472944EnsemblClinVar.1
Natural variantiVAR_074848615L → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472945EnsemblClinVar.1
Natural variantiVAR_014375615L → V in LQT2. Corresponds to variant dbSNP:rs199472945EnsemblClinVar.1
Natural variantiVAR_074849616Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472946EnsemblClinVar.1
Natural variantiVAR_074850621S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472949EnsemblClinVar.1
Natural variantiVAR_068268622L → F in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473525EnsemblClinVar.1
Natural variantiVAR_068269623T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472950EnsemblClinVar.1
Natural variantiVAR_074851626G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472952EnsemblClinVar.1
Natural variantiVAR_074852626G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472952EnsemblClinVar.1
Natural variantiVAR_014376626G → S in LQT2. Corresponds to variant dbSNP:rs199472953EnsemblClinVar.1
Natural variantiVAR_014377627F → L in LQT2. Corresponds to variant dbSNP:rs199473039EnsemblClinVar.1
Natural variantiVAR_008583628G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912507EnsemblClinVar.1
Natural variantiVAR_068270628G → V in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472955EnsemblClinVar.1
Natural variantiVAR_008932629N → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472956EnsemblClinVar.1
Natural variantiVAR_074853629N → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472957EnsemblClinVar.1
Natural variantiVAR_008933629N → K in LQT2. 1 PublicationCorresponds to variant dbSNP:rs41307295EnsemblClinVar.1
Natural variantiVAR_009179629N → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472957EnsemblClinVar.1
Natural variantiVAR_008935630V → A in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473526EnsemblClinVar.1
Natural variantiVAR_008934630V → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472958EnsemblClinVar.1
Natural variantiVAR_014378632P → S in LQT2. Corresponds to variant dbSNP:rs199473527EnsemblClinVar.1
Natural variantiVAR_008936633N → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472961EnsemblClinVar.1
Natural variantiVAR_074854634T → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472962EnsemblClinVar.1
Natural variantiVAR_074855635N → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472963EnsemblClinVar.1
Natural variantiVAR_068271635N → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472964EnsemblClinVar.1
Natural variantiVAR_074856635N → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472965EnsemblClinVar.1
Natural variantiVAR_074857637E → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472966EnsemblClinVar.1
Natural variantiVAR_014379637E → K in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472968EnsemblClinVar.1
Natural variantiVAR_014380638K → E in LQT2. Corresponds to variant dbSNP:rs199473528EnsemblClinVar.1
Natural variantiVAR_074858638K → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472969EnsemblClinVar.1
Natural variantiVAR_014381638Missing in LQT2; unknown pathological significance. 1 Publication1
Natural variantiVAR_008937640F → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472970EnsemblClinVar.1
Natural variantiVAR_068272640F → V in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473529EnsemblClinVar.1
Natural variantiVAR_068273641S → F in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472971EnsemblClinVar.1
Natural variantiVAR_074859644V → F in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472972EnsemblClinVar.1
Natural variantiVAR_074860644V → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472972EnsemblClinVar.1
Natural variantiVAR_074861645M → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472973EnsemblClinVar.1
Natural variantiVAR_014382645M → L in LQT2. Corresponds to variant dbSNP:rs199472974EnsemblClinVar.1
Natural variantiVAR_074862648G → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472975EnsemblClinVar.1
Natural variantiVAR_074863656F → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472977EnsemblClinVar.1
Natural variantiVAR_074864657G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472978EnsemblClinVar.1
Natural variantiVAR_074865660S → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472979EnsemblClinVar.1
Natural variantiVAR_074866662I → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472980EnsemblClinVar.1
Natural variantiVAR_068274671 – 675Missing in LQT2. 1 Publication5
Natural variantiVAR_074867678L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472981EnsemblClinVar.1
Natural variantiVAR_074868687H → Y in LQT2; unknown pathological significance. 1 Publication