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Protein

Potassium voltage-gated channel subfamily H member 2

Gene

KCNH2

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

GO - Biological processi

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
MIMi152427 gene
neXtProtiNX_Q12809

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: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 PublicationCorresponds to variant dbSNP:rs199472982