Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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-Experimental evidence at protein leveli

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
Nucleotide bindingi742 – 842cNMPAdd BLAST101

GO - Molecular functioni

  • C3HC4-type RING finger domain binding Source: BHF-UCL
  • delayed rectifier potassium channel activity Source: BHF-UCL
  • identical protein binding Source: IntAct
  • inward rectifier potassium channel activity Source: BHF-UCL
  • phosphorelay sensor kinase activity Source: InterPro
  • protein homodimerization activity Source: BHF-UCL
  • scaffold protein binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL
  • voltage-gated potassium channel activity Source: BHF-UCL
  • voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization Source: BHF-UCL
  • voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL

GO - Biological processi

  • cardiac conduction Source: Reactome
  • cardiac muscle contraction Source: BHF-UCL
  • cellular response to drug Source: BHF-UCL
  • membrane depolarization during action potential Source: BHF-UCL
  • membrane repolarization Source: UniProtKB
  • membrane repolarization during action potential Source: BHF-UCL
  • membrane repolarization during cardiac muscle cell action potential Source: BHF-UCL
  • membrane repolarization during ventricular cardiac muscle cell action potential Source: BHF-UCL
  • negative regulation of potassium ion export Source: BHF-UCL
  • negative regulation of potassium ion transmembrane transport Source: BHF-UCL
  • positive regulation of potassium ion transmembrane transport Source: BHF-UCL
  • potassium ion export Source: BHF-UCL
  • potassium ion export across plasma membrane Source: BHF-UCL
  • potassium ion homeostasis Source: BHF-UCL
  • potassium ion transmembrane transport Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of heart rate by hormone Source: BHF-UCL
  • regulation of membrane potential Source: BHF-UCL
  • regulation of membrane repolarization Source: BHF-UCL
  • regulation of potassium ion transmembrane transport Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • ventricular cardiac muscle cell action potential Source: BHF-UCL

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-1296072. Voltage gated Potassium channels.
R-HSA-5576890. Phase 3 - rapid repolarisation.
SignaLinkiQ12809.
SIGNORiQ12809.

Protein family/group databases

TCDBi1.A.1.20.1. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

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
Gene namesi
Name:KCNH2
Synonyms:ERG, ERG1, HERG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000055118.14.
HGNCiHGNC:6251. KCNH2.

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
Topological domaini1 – 403CytoplasmicSequence analysisAdd BLAST403
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
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

Pathology & Biotechi

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
Natural variantiVAR_07476516D → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472825Ensembl.1
Natural variantiVAR_07476620R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473486Ensembl.1
Natural variantiVAR_06824926S → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472827Ensembl.1
Natural variantiVAR_00890729F → L in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472830Ensembl.1
Natural variantiVAR_07476730I → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472832Ensembl.1
Natural variantiVAR_06825031I → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472833Ensembl.1
Natural variantiVAR_07476832A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472834Ensembl.1
Natural variantiVAR_00890833N → T in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473487Ensembl.1
Natural variantiVAR_07476941V → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472835Ensembl.1
Natural variantiVAR_07477043Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472836Ensembl.1
Natural variantiVAR_07477145N → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472839Ensembl.1
Natural variantiVAR_00990947G → V in LQT2. Corresponds to variant dbSNP:rs199473490Ensembl.1
Natural variantiVAR_07477249C → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472840Ensembl.1
Natural variantiVAR_07477353G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473491Ensembl.1
Natural variantiVAR_00890953G → R in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472842Ensembl.1
Natural variantiVAR_07477454Y → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472843Ensembl.1
Natural variantiVAR_06825155S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472844Ensembl.1
Natural variantiVAR_00891056R → Q in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472845Ensembl.1
Natural variantiVAR_07477557A → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472846Ensembl.1
Natural variantiVAR_07477658E → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472847Ensembl.1
Natural variantiVAR_07477758E → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473492Ensembl.1
Natural variantiVAR_07477858E → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472847Ensembl.1
Natural variantiVAR_07477964C → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473414Ensembl.1
Natural variantiVAR_07795364C → Y in LQT2; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs199473415Ensembl.1
Natural variantiVAR_01437165T → P in LQT2; decreased protein stability. 3 PublicationsCorresponds to variant dbSNP:rs28933095Ensembl.1
Natural variantiVAR_00891166C → G in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473416Ensembl.1
Natural variantiVAR_07478068F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473417Ensembl.1
Natural variantiVAR_07478170H → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473418Ensembl.1
Natural variantiVAR_00891270H → R in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473419Ensembl.1
Natural variantiVAR_07478271G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473420Ensembl.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:rs199473421Ensembl.1
Natural variantiVAR_00991072P → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473421Ensembl.1
Natural variantiVAR_07478574T → M in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473422Ensembl.1
Natural variantiVAR_07478674T → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473666Ensembl.1
Natural variantiVAR_07478774T → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473422Ensembl.1
Natural variantiVAR_00891378A → P in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472848Ensembl.1
Natural variantiVAR_06825285A → V in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473494Ensembl.1
Natural variantiVAR_07478886L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472851Ensembl.1
Natural variantiVAR_00891486L → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472851Ensembl.1
Natural variantiVAR_07478994V → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472852Ensembl.1
Natural variantiVAR_036669100R → G in LQT2; digenic; the patient also carries mutation N-1819 on SCN5A. 1 PublicationCorresponds to variant dbSNP:rs121912515Ensembl.1
Natural variantiVAR_068253100R → Q in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472855Ensembl.1
Natural variantiVAR_074790100R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121912515Ensembl.1
Natural variantiVAR_074791102D → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472857Ensembl.1
Natural variantiVAR_074792106F → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472858Ensembl.1
Natural variantiVAR_074793108C → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472859Ensembl.1
Natural variantiVAR_074794114P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472861Ensembl.1
Natural variantiVAR_074795125F → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473499Ensembl.1
Natural variantiVAR_074796141P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472864Ensembl.1
Natural variantiVAR_074797149G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472865Ensembl.1
Natural variantiVAR_074798164R → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472866Ensembl.1
Natural variantiVAR_008915176R → W in LQT2. 1 PublicationCorresponds to variant dbSNP:rs36210422Ensembl.1
Natural variantiVAR_074799218M → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472869Ensembl.1
Natural variantiVAR_068254238G → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473501Ensembl.1
Natural variantiVAR_074800242R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472872Ensembl.1
Natural variantiVAR_074801251P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472873Ensembl.1
Natural variantiVAR_074802259D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472876Ensembl.1
Natural variantiVAR_074803277A → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472878Ensembl.1
Natural variantiVAR_074804291M → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472881Ensembl.1
Natural variantiVAR_074805301R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472883Ensembl.1
Natural variantiVAR_068255306G → W in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472884Ensembl.1
Natural variantiVAR_009911312R → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472885Ensembl.1
Natural variantiVAR_074806314G → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473504Ensembl.1
Natural variantiVAR_068256320S → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472886Ensembl.1
Natural variantiVAR_074807323D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472887Ensembl.1
Natural variantiVAR_068257328R → C in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473505Ensembl.1
Natural variantiVAR_009912347P → S in LQT2. Corresponds to variant dbSNP:rs138776684Ensembl.1
Natural variantiVAR_074808402H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473506Ensembl.1
Natural variantiVAR_074809410W → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472892Ensembl.1
Natural variantiVAR_074684413L → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472893Ensembl.1
Natural variantiVAR_068258420Y → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473507Ensembl.1
Natural variantiVAR_068259421T → M in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472894Ensembl.1
Natural variantiVAR_068260422A → T in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472895Ensembl.1
Natural variantiVAR_074810426P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472896Ensembl.1
Natural variantiVAR_074811427Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472897Ensembl.1
Natural variantiVAR_074812427Y → H in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472898Ensembl.1
Natural variantiVAR_068261427Y → S in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472897Ensembl.1
Natural variantiVAR_074813428S → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472899Ensembl.1
Natural variantiVAR_074814431F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472900Ensembl.1
Natural variantiVAR_008916436T → M in LQT2. Corresponds to variant dbSNP:rs199472901Ensembl.1
Natural variantiVAR_074815440P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473509Ensembl.1
Natural variantiVAR_074685444E → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs9770044Ensembl.1
Natural variantiVAR_014373451P → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472902Ensembl.1
Natural variantiVAR_068262456D → Y in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473510Ensembl.1
Natural variantiVAR_074816460D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472903Ensembl.1
Natural variantiVAR_074817466D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473511Ensembl.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:rs121912505Ensembl.1
Natural variantiVAR_074818473T → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472905Ensembl.1
Natural variantiVAR_008917474T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472906Ensembl.1
Natural variantiVAR_074819475Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472907Ensembl.1
Natural variantiVAR_068263475Missing in LQT2. 1 Publication1
Natural variantiVAR_074820476V → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472908Ensembl.1
Natural variantiVAR_036671490A → T in LQT2; bradycardia-induced. 2 PublicationsCorresponds to variant dbSNP:rs28928905Ensembl.1
Natural variantiVAR_074821493Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472911Ensembl.1
Natural variantiVAR_074822493Y → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472911Ensembl.1
Natural variantiVAR_009178500 – 508Missing in LQT2. 9
Natural variantiVAR_074823501D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472912Ensembl.1
Natural variantiVAR_074824501D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472912Ensembl.1
Natural variantiVAR_036672525K → N in LQT2; located on the same allele as Pro-528. 1 PublicationCorresponds to variant dbSNP:rs199472913Ensembl.1
Natural variantiVAR_036673528R → P in LQT2; located on the same allele as Asn-525. 1 PublicationCorresponds to variant dbSNP:rs199472914Ensembl.1
Natural variantiVAR_009913531R → Q in LQT2. Corresponds to variant dbSNP:rs199473515Ensembl.1
Natural variantiVAR_074825531R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472915Ensembl.1
Natural variantiVAR_008579534R → C in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472916Ensembl.1
Natural variantiVAR_074826534R → L in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473516Ensembl.1
Natural variantiVAR_008918552L → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472918Ensembl.1
Natural variantiVAR_074827558A → E in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472919Ensembl.1
Natural variantiVAR_008919558A → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs121912516Ensembl.1
Natural variantiVAR_074686559L → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472920Ensembl.1
Natural variantiVAR_014374561A → T in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472921Ensembl.1
Natural variantiVAR_008580561A → V in LQT2; the mutation reduces wild-type channel expression. 4 PublicationsCorresponds to variant dbSNP:rs121912504Ensembl.1
Natural variantiVAR_068264562H → P in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472922Ensembl.1
Natural variantiVAR_074828562H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472922Ensembl.1
Natural variantiVAR_008920564L → P in LQT2. Corresponds to variant dbSNP:rs199472924Ensembl.1
Natural variantiVAR_074829565A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473518Ensembl.1
Natural variantiVAR_074830566C → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472925Ensembl.1
Natural variantiVAR_074831568W → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472927Ensembl.1
Natural variantiVAR_008921569Y → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473520Ensembl.1
Natural variantiVAR_068265571I → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472928Ensembl.1
Natural variantiVAR_074832571I → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472928Ensembl.1
Natural variantiVAR_008923572G → C in LQT2. 1 PublicationCorresponds to variant dbSNP:rs9333649Ensembl.1
Natural variantiVAR_074833572G → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473423Ensembl.1
Natural variantiVAR_008922572G → R in LQT2; severe form. 1 PublicationCorresponds to variant dbSNP:rs9333649Ensembl.1
Natural variantiVAR_068266572G → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs9333649Ensembl.1
Natural variantiVAR_074834572G → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473423Ensembl.1
Natural variantiVAR_008581582R → C in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912508Ensembl.1
Natural variantiVAR_074835582R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473426Ensembl.1
Natural variantiVAR_074836584G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473428Ensembl.1
Natural variantiVAR_008924584G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473428Ensembl.1
Natural variantiVAR_009914585W → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473430Ensembl.1
Natural variantiVAR_008925588N → D in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473431Ensembl.1
Natural variantiVAR_074837593I → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_008582593I → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_009915593I → T in LQT2. Corresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_074838594G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472931Ensembl.1
Natural variantiVAR_074839596P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472933Ensembl.1
Natural variantiVAR_074840596P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472933Ensembl.1
Natural variantiVAR_068267596P → R in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472933Ensembl.1
Natural variantiVAR_074841597Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472934Ensembl.1
Natural variantiVAR_074842599S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472935Ensembl.1
Natural variantiVAR_074843601G → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472936Ensembl.1
Natural variantiVAR_008926601G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199472936Ensembl.1
Natural variantiVAR_008927604G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs199473522Ensembl.1
Natural variantiVAR_074844605P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472938Ensembl.1
Natural variantiVAR_074845605P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472939Ensembl.1
Natural variantiVAR_074846609D → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472940Ensembl.1
Natural variantiVAR_074847609D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472941Ensembl.1
Natural variantiVAR_009916609D → N in LQT2. Corresponds to variant dbSNP:rs199472941Ensembl.1
Natural variantiVAR_008928611Y → H in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472942Ensembl.1
Natural variantiVAR_008929612V → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472943Ensembl.1
Natural variantiVAR_008930613T → M in LQT2. 4 PublicationsCorresponds to variant dbSNP:rs199473524Ensembl.1
Natural variantiVAR_008931614A → V in LQT2. 5 PublicationsCorresponds to variant dbSNP:rs199472944Ensembl.1
Natural variantiVAR_074848615L → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472945Ensembl.1
Natural variantiVAR_014375615L → V in LQT2. Corresponds to variant dbSNP:rs199472945Ensembl.1
Natural variantiVAR_074849616Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472946Ensembl.1
Natural variantiVAR_074850621S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472949Ensembl.1
Natural variantiVAR_068268622L → F in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199473525Ensembl.1
Natural variantiVAR_068269623T → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472950Ensembl.1
Natural variantiVAR_074851626G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472952Ensembl.1
Natural variantiVAR_074852626G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472952Ensembl.1
Natural variantiVAR_014376626G → S in LQT2. Corresponds to variant dbSNP:rs199472953Ensembl.1
Natural variantiVAR_014377627F → L in LQT2. Corresponds to variant dbSNP:rs199473039Ensembl.1
Natural variantiVAR_008583628G → S in LQT2. 3 PublicationsCorresponds to variant dbSNP:rs121912507Ensembl.1
Natural variantiVAR_068270628G → V in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472955Ensembl.1
Natural variantiVAR_008932629N → D in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472956Ensembl.1
Natural variantiVAR_074853629N → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472957Ensembl.1
Natural variantiVAR_008933629N → K in LQT2. 1 PublicationCorresponds to variant dbSNP:rs41307295Ensembl.1
Natural variantiVAR_009179629N → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472957Ensembl.1
Natural variantiVAR_008935630V → A in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199473526Ensembl.1
Natural variantiVAR_008934630V → L in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472958Ensembl.1
Natural variantiVAR_014378632P → S in LQT2. Corresponds to variant dbSNP:rs199473527Ensembl.1
Natural variantiVAR_008936633N → S in LQT2. 2 PublicationsCorresponds to variant dbSNP:rs199472961Ensembl.1
Natural variantiVAR_074854634T → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472962Ensembl.1
Natural variantiVAR_074855635N → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472963Ensembl.1
Natural variantiVAR_068271635N → I in LQT2. 1 PublicationCorresponds to variant dbSNP:rs199472964Ensembl.1
Natural variantiVAR_074856635N → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199472965Ensembl.1
Natural variantiVAR_074857637E → D in LQT2. 2 Publications