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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-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). Isoforms USO have no channel activity by themself, 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 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
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000055118-MONOMER.
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

HGNCiHGNC:6251. KCNH2.

Subcellular locationi

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

GO - Cellular componenti

  • cell surface Source: BHF-UCL
  • perinuclear region of cytoplasm Source: BHF-UCL
  • plasma membrane Source: BHF-UCL
  • voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Long QT syndrome 2 (LQT2)27 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 rs199472825dbSNPEnsembl.1
Natural variantiVAR_07476620R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473486dbSNPEnsembl.1
Natural variantiVAR_06824926S → I in LQT2. 1 PublicationCorresponds to variant rs199472827dbSNPEnsembl.1
Natural variantiVAR_00890729F → L in LQT2. 3 PublicationsCorresponds to variant rs199472830dbSNPEnsembl.1
Natural variantiVAR_07476730I → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472832dbSNPEnsembl.1
Natural variantiVAR_06825031I → S in LQT2. 1 PublicationCorresponds to variant rs199472833dbSNPEnsembl.1
Natural variantiVAR_07476832A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472834dbSNPEnsembl.1
Natural variantiVAR_00890833N → T in LQT2. 1 PublicationCorresponds to variant rs199473487dbSNPEnsembl.1
Natural variantiVAR_07476941V → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472835dbSNPEnsembl.1
Natural variantiVAR_07477043Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472836dbSNPEnsembl.1
Natural variantiVAR_07477145N → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472839dbSNPEnsembl.1
Natural variantiVAR_00990947G → V in LQT2. Corresponds to variant rs199473490dbSNPEnsembl.1
Natural variantiVAR_07477249C → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472840dbSNPEnsembl.1
Natural variantiVAR_07477353G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473491dbSNPEnsembl.1
Natural variantiVAR_00890953G → R in LQT2. 2 PublicationsCorresponds to variant rs199472842dbSNPEnsembl.1
Natural variantiVAR_07477454Y → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472843dbSNPEnsembl.1
Natural variantiVAR_06825155S → L in LQT2. 1 PublicationCorresponds to variant rs199472844dbSNPEnsembl.1
Natural variantiVAR_00891056R → Q in LQT2. 1 PublicationCorresponds to variant rs199472845dbSNPEnsembl.1
Natural variantiVAR_07477557A → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472846dbSNPEnsembl.1
Natural variantiVAR_07477658E → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472847dbSNPEnsembl.1
Natural variantiVAR_07477758E → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473492dbSNPEnsembl.1
Natural variantiVAR_07477858E → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472847dbSNPEnsembl.1
Natural variantiVAR_07477964C → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473414dbSNPEnsembl.1
Natural variantiVAR_01437165T → P in LQT2. 2 PublicationsCorresponds to variant rs28933095dbSNPEnsembl.1
Natural variantiVAR_00891166C → G in LQT2. 1 PublicationCorresponds to variant rs199473416dbSNPEnsembl.1
Natural variantiVAR_07478068F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473417dbSNPEnsembl.1
Natural variantiVAR_07478170H → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473418dbSNPEnsembl.1
Natural variantiVAR_00891270H → R in LQT2. 3 PublicationsCorresponds to variant rs199473419dbSNPEnsembl.1
Natural variantiVAR_07478271G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473420dbSNPEnsembl.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 rs199473421dbSNPEnsembl.1
Natural variantiVAR_00991072P → Q in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473421dbSNPEnsembl.1
Natural variantiVAR_07478574T → M in LQT2. 2 PublicationsCorresponds to variant rs199473422dbSNPEnsembl.1
Natural variantiVAR_07478674T → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473666dbSNPEnsembl.1
Natural variantiVAR_07478774T → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473422dbSNPEnsembl.1
Natural variantiVAR_00891378A → P in LQT2. 2 PublicationsCorresponds to variant rs199472848dbSNPEnsembl.1
Natural variantiVAR_06825285A → V in LQT2. 2 PublicationsCorresponds to variant rs199473494dbSNPEnsembl.1
Natural variantiVAR_07478886L → P in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472851dbSNPEnsembl.1
Natural variantiVAR_00891486L → R in LQT2. 1 PublicationCorresponds to variant rs199472851dbSNPEnsembl.1
Natural variantiVAR_07478994V → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472852dbSNPEnsembl.1
Natural variantiVAR_036669100R → G in LQT2; digenic; the patient also carries mutation N-1819 on SCN5A. 1 PublicationCorresponds to variant rs121912515dbSNPEnsembl.1
Natural variantiVAR_068253100R → Q in LQT2. 2 PublicationsCorresponds to variant rs199472855dbSNPEnsembl.1
Natural variantiVAR_074790100R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs121912515dbSNPEnsembl.1
Natural variantiVAR_074791102D → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472857dbSNPEnsembl.1
Natural variantiVAR_074792106F → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472858dbSNPEnsembl.1
Natural variantiVAR_074793108C → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472859dbSNPEnsembl.1
Natural variantiVAR_074794114P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472861dbSNPEnsembl.1
Natural variantiVAR_074795125F → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473499dbSNPEnsembl.1
Natural variantiVAR_074796141P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472864dbSNPEnsembl.1
Natural variantiVAR_074797149G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472865dbSNPEnsembl.1
Natural variantiVAR_074798164R → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472866dbSNPEnsembl.1
Natural variantiVAR_008915176R → W in LQT2. 1 PublicationCorresponds to variant rs36210422dbSNPEnsembl.1
Natural variantiVAR_074799218M → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472869dbSNPEnsembl.1
Natural variantiVAR_068254238G → S in LQT2. 1 PublicationCorresponds to variant rs199473501dbSNPEnsembl.1
Natural variantiVAR_074800242R → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472872dbSNPEnsembl.1
Natural variantiVAR_074801251P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472873dbSNPEnsembl.1
Natural variantiVAR_074802259D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472876dbSNPEnsembl.1
Natural variantiVAR_074803277A → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472878dbSNPEnsembl.1
Natural variantiVAR_074804291M → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472881dbSNPEnsembl.1
Natural variantiVAR_074805301R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472883dbSNPEnsembl.1
Natural variantiVAR_068255306G → W in LQT2. 1 PublicationCorresponds to variant rs199472884dbSNPEnsembl.1
Natural variantiVAR_009911312R → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472885dbSNPEnsembl.1
Natural variantiVAR_074806314G → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473504dbSNPEnsembl.1
Natural variantiVAR_068256320S → L in LQT2. 1 PublicationCorresponds to variant rs199472886dbSNPEnsembl.1
Natural variantiVAR_074807323D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472887dbSNPEnsembl.1
Natural variantiVAR_068257328R → C in LQT2. 2 PublicationsCorresponds to variant rs199473505dbSNPEnsembl.1
Natural variantiVAR_009912347P → S in LQT2. Corresponds to variant rs138776684dbSNPEnsembl.1
Natural variantiVAR_074808402H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473506dbSNPEnsembl.1
Natural variantiVAR_074809410W → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472892dbSNPEnsembl.1
Natural variantiVAR_074684413L → P in LQT2. 1 PublicationCorresponds to variant rs199472893dbSNPEnsembl.1
Natural variantiVAR_068258420Y → C in LQT2. 1 PublicationCorresponds to variant rs199473507dbSNPEnsembl.1
Natural variantiVAR_068259421T → M in LQT2. 2 PublicationsCorresponds to variant rs199472894dbSNPEnsembl.1
Natural variantiVAR_068260422A → T in LQT2. 1 PublicationCorresponds to variant rs199472895dbSNPEnsembl.1
Natural variantiVAR_074810426P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472896dbSNPEnsembl.1
Natural variantiVAR_074811427Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472897dbSNPEnsembl.1
Natural variantiVAR_074812427Y → H in LQT2. 2 PublicationsCorresponds to variant rs199472898dbSNPEnsembl.1
Natural variantiVAR_068261427Y → S in LQT2. 1 PublicationCorresponds to variant rs199472897dbSNPEnsembl.1
Natural variantiVAR_074813428S → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472899dbSNPEnsembl.1
Natural variantiVAR_074814431F → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472900dbSNPEnsembl.1
Natural variantiVAR_008916436T → M in LQT2. Corresponds to variant rs199472901dbSNPEnsembl.1
Natural variantiVAR_074815440P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473509dbSNPEnsembl.1
Natural variantiVAR_074685444E → D in LQT2. 1 PublicationCorresponds to variant rs9770044dbSNPEnsembl.1
Natural variantiVAR_014373451P → L in LQT2. 2 PublicationsCorresponds to variant rs199472902dbSNPEnsembl.1
Natural variantiVAR_068262456D → Y in LQT2. 1 PublicationCorresponds to variant rs199473510dbSNPEnsembl.1
Natural variantiVAR_074816460D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472903dbSNPEnsembl.1
Natural variantiVAR_074817466D → Y in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473511dbSNPEnsembl.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 rs121912505dbSNPEnsembl.1
Natural variantiVAR_074818473T → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472905dbSNPEnsembl.1
Natural variantiVAR_008917474T → I in LQT2. 1 PublicationCorresponds to variant rs199472906dbSNPEnsembl.1
Natural variantiVAR_074819475Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472907dbSNPEnsembl.1
Natural variantiVAR_068263475Missing in LQT2. 1 Publication1
Natural variantiVAR_074820476V → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472908dbSNPEnsembl.1
Natural variantiVAR_036671490A → T in LQT2; bradycardia-induced. 2 PublicationsCorresponds to variant rs28928905dbSNPEnsembl.1
Natural variantiVAR_074821493Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472911dbSNPEnsembl.1
Natural variantiVAR_074822493Y → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472911dbSNPEnsembl.1
Natural variantiVAR_009178500 – 508Missing in LQT2. 9
Natural variantiVAR_074823501D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472912dbSNPEnsembl.1
Natural variantiVAR_074824501D → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472912dbSNPEnsembl.1
Natural variantiVAR_036672525K → N in LQT2; located on the same allele as Pro-528. 1 PublicationCorresponds to variant rs199472913dbSNPEnsembl.1
Natural variantiVAR_036673528R → P in LQT2; located on the same allele as Asn-525. 1 PublicationCorresponds to variant rs199472914dbSNPEnsembl.1
Natural variantiVAR_009913531R → Q in LQT2. Corresponds to variant rs199473515dbSNPEnsembl.1
Natural variantiVAR_074825531R → W in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472915dbSNPEnsembl.1
Natural variantiVAR_008579534R → C in LQT2. 3 PublicationsCorresponds to variant rs199472916dbSNPEnsembl.1
Natural variantiVAR_074826534R → L in LQT2. 2 PublicationsCorresponds to variant rs199473516dbSNPEnsembl.1
Natural variantiVAR_008918552L → S in LQT2. 2 PublicationsCorresponds to variant rs199472918dbSNPEnsembl.1
Natural variantiVAR_074827558A → E in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472919dbSNPEnsembl.1
Natural variantiVAR_008919558A → P in LQT2. 1 PublicationCorresponds to variant rs121912516dbSNPEnsembl.1
Natural variantiVAR_074686559L → H in LQT2. 1 PublicationCorresponds to variant rs199472920dbSNPEnsembl.1
Natural variantiVAR_014374561A → T in LQT2. 3 PublicationsCorresponds to variant rs199472921dbSNPEnsembl.1
Natural variantiVAR_008580561A → V in LQT2; the mutation reduces wild-type channel expression. 4 PublicationsCorresponds to variant rs121912504dbSNPEnsembl.1
Natural variantiVAR_068264562H → P in LQT2. 1 PublicationCorresponds to variant rs199472922dbSNPEnsembl.1
Natural variantiVAR_074828562H → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472922dbSNPEnsembl.1
Natural variantiVAR_008920564L → P in LQT2. Corresponds to variant rs199472924dbSNPEnsembl.1
Natural variantiVAR_074829565A → T in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473518dbSNPEnsembl.1
Natural variantiVAR_074830566C → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472925dbSNPEnsembl.1
Natural variantiVAR_074831568W → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472927dbSNPEnsembl.1
Natural variantiVAR_008921569Y → H in LQT2. 1 PublicationCorresponds to variant rs199473520dbSNPEnsembl.1
Natural variantiVAR_068265571I → L in LQT2. 1 PublicationCorresponds to variant rs199472928dbSNPEnsembl.1
Natural variantiVAR_074832571I → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472928dbSNPEnsembl.1
Natural variantiVAR_008923572G → C in LQT2. 1 PublicationCorresponds to variant rs9333649dbSNPEnsembl.1
Natural variantiVAR_074833572G → D in LQT2. 2 PublicationsCorresponds to variant rs199473423dbSNPEnsembl.1
Natural variantiVAR_008922572G → R in LQT2; severe form. 1 PublicationCorresponds to variant rs9333649dbSNPEnsembl.1
Natural variantiVAR_068266572G → S in LQT2. 2 PublicationsCorresponds to variant rs9333649dbSNPEnsembl.1
Natural variantiVAR_074834572G → V in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473423dbSNPEnsembl.1
Natural variantiVAR_008581582R → C in LQT2. 3 PublicationsCorresponds to variant rs121912508dbSNPEnsembl.1
Natural variantiVAR_074835582R → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473426dbSNPEnsembl.1
Natural variantiVAR_074836584G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473428dbSNPEnsembl.1
Natural variantiVAR_008924584G → S in LQT2. 3 PublicationsCorresponds to variant rs199473428dbSNPEnsembl.1
Natural variantiVAR_009914585W → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199473430dbSNPEnsembl.1
Natural variantiVAR_008925588N → D in LQT2. 2 PublicationsCorresponds to variant rs199473431dbSNPEnsembl.1
Natural variantiVAR_074837593I → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs28928904dbSNPEnsembl.1
Natural variantiVAR_008582593I → R in LQT2. 1 PublicationCorresponds to variant rs28928904dbSNPEnsembl.1
Natural variantiVAR_009915593I → T in LQT2. Corresponds to variant rs28928904dbSNPEnsembl.1
Natural variantiVAR_074838594G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472931dbSNPEnsembl.1
Natural variantiVAR_074839596P → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472933dbSNPEnsembl.1
Natural variantiVAR_074840596P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472933dbSNPEnsembl.1
Natural variantiVAR_068267596P → R in LQT2. 1 PublicationCorresponds to variant rs199472933dbSNPEnsembl.1
Natural variantiVAR_074841597Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472934dbSNPEnsembl.1
Natural variantiVAR_074842599S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472935dbSNPEnsembl.1
Natural variantiVAR_074843601G → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472936dbSNPEnsembl.1
Natural variantiVAR_008926601G → S in LQT2. 3 PublicationsCorresponds to variant rs199472936dbSNPEnsembl.1
Natural variantiVAR_008927604G → S in LQT2. 3 PublicationsCorresponds to variant rs199473522dbSNPEnsembl.1
Natural variantiVAR_074844605P → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472938dbSNPEnsembl.1
Natural variantiVAR_074845605P → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472939dbSNPEnsembl.1
Natural variantiVAR_074846609D → G in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472940dbSNPEnsembl.1
Natural variantiVAR_074847609D → H in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472941dbSNPEnsembl.1
Natural variantiVAR_009916609D → N in LQT2. Corresponds to variant rs199472941dbSNPEnsembl.1
Natural variantiVAR_008928611Y → H in LQT2. 1 PublicationCorresponds to variant rs199472942dbSNPEnsembl.1
Natural variantiVAR_008929612V → L in LQT2. 1 PublicationCorresponds to variant rs199472943dbSNPEnsembl.1
Natural variantiVAR_008930613T → M in LQT2. 4 PublicationsCorresponds to variant rs199473524dbSNPEnsembl.1
Natural variantiVAR_008931614A → V in LQT2. 5 PublicationsCorresponds to variant rs199472944dbSNPEnsembl.1
Natural variantiVAR_074848615L → F in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472945dbSNPEnsembl.1
Natural variantiVAR_014375615L → V in LQT2. Corresponds to variant rs199472945dbSNPEnsembl.1
Natural variantiVAR_074849616Y → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472946dbSNPEnsembl.1
Natural variantiVAR_074850621S → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472949dbSNPEnsembl.1
Natural variantiVAR_068268622L → F in LQT2. 1 PublicationCorresponds to variant rs199473525dbSNPEnsembl.1
Natural variantiVAR_068269623T → I in LQT2. 1 PublicationCorresponds to variant rs199472950dbSNPEnsembl.1
Natural variantiVAR_074851626G → A in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472952dbSNPEnsembl.1
Natural variantiVAR_074852626G → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472952dbSNPEnsembl.1
Natural variantiVAR_014376626G → S in LQT2. Corresponds to variant rs199472953dbSNPEnsembl.1
Natural variantiVAR_014377627F → L in LQT2. Corresponds to variant rs199473039dbSNPEnsembl.1
Natural variantiVAR_008583628G → S in LQT2. 3 PublicationsCorresponds to variant rs121912507dbSNPEnsembl.1
Natural variantiVAR_068270628G → V in LQT2. 1 PublicationCorresponds to variant rs199472955dbSNPEnsembl.1
Natural variantiVAR_008932629N → D in LQT2. 1 PublicationCorresponds to variant rs199472956dbSNPEnsembl.1
Natural variantiVAR_074853629N → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472957dbSNPEnsembl.1
Natural variantiVAR_008933629N → K in LQT2. 1 PublicationCorresponds to variant rs41307295dbSNPEnsembl.1
Natural variantiVAR_009179629N → S in LQT2. 2 PublicationsCorresponds to variant rs199472957dbSNPEnsembl.1
Natural variantiVAR_008935630V → A in LQT2. 2 PublicationsCorresponds to variant rs199473526dbSNPEnsembl.1
Natural variantiVAR_008934630V → L in LQT2. 1 PublicationCorresponds to variant rs199472958dbSNPEnsembl.1
Natural variantiVAR_014378632P → S in LQT2. Corresponds to variant rs199473527dbSNPEnsembl.1
Natural variantiVAR_008936633N → S in LQT2. 2 PublicationsCorresponds to variant rs199472961dbSNPEnsembl.1
Natural variantiVAR_074854634T → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472962dbSNPEnsembl.1
Natural variantiVAR_074855635N → D in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472963dbSNPEnsembl.1
Natural variantiVAR_068271635N → I in LQT2. 1 PublicationCorresponds to variant rs199472964dbSNPEnsembl.1
Natural variantiVAR_074856635N → K in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472965dbSNPEnsembl.1
Natural variantiVAR_074857637E → D in LQT2. 2 PublicationsCorresponds to variant rs199472966dbSNPEnsembl.1
Natural variantiVAR_014379637E → K in LQT2. 1 PublicationCorresponds to variant rs199472968dbSNPEnsembl.1
Natural variantiVAR_014380638K → E in LQT2. Corresponds to variant rs199473528dbSNPEnsembl.1
Natural variantiVAR_074858638K → N in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472969dbSNPEnsembl.1
Natural variantiVAR_014381638Missing in LQT2; unknown pathological significance. 1 Publication1
Natural variantiVAR_008937640F → L in LQT2. 1 PublicationCorresponds to variant rs199472970dbSNPEnsembl.1
Natural variantiVAR_068272640F → V in LQT2. 1 PublicationCorresponds to variant rs199473529dbSNPEnsembl.1
Natural variantiVAR_068273641S → F in LQT2. 1 PublicationCorresponds to variant rs199472971dbSNPEnsembl.1
Natural variantiVAR_074859644V → F in LQT2. 2 PublicationsCorresponds to variant rs199472972dbSNPEnsembl.1
Natural variantiVAR_074860644V → L in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472972dbSNPEnsembl.1
Natural variantiVAR_074861645M → I in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472973dbSNPEnsembl.1
Natural variantiVAR_014382645M → L in LQT2. Corresponds to variant rs199472974dbSNPEnsembl.1
Natural variantiVAR_074862648G → S in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472975dbSNPEnsembl.1
Natural variantiVAR_074863656F → C in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472977dbSNPEnsembl.1
Natural variantiVAR_074864657G → R in LQT2; unknown pathological significance. 1 PublicationCorresponds to variant rs199472978dbSNPEnsembl.1
Natural variantiVAR_074865660S → L in LQT2. 2 Publications