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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...

Keywordsi

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

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

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. Corresponds to variant dbSNP:rs1994728251 PublicationEnsembl.1
Natural variantiVAR_07476620R → G in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734861 PublicationEnsembl.1
Natural variantiVAR_06824926S → I in LQT2. Corresponds to variant dbSNP:rs1994728271 PublicationEnsembl.1
Natural variantiVAR_00890729F → L in LQT2. Corresponds to variant dbSNP:rs1994728303 PublicationsEnsembl.1
Natural variantiVAR_07476730I → T in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728321 PublicationEnsembl.1
Natural variantiVAR_06825031I → S in LQT2. Corresponds to variant dbSNP:rs1994728331 PublicationEnsembl.1
Natural variantiVAR_07476832A → T in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728341 PublicationEnsembl.1
Natural variantiVAR_00890833N → T in LQT2. Corresponds to variant dbSNP:rs1994734871 PublicationEnsembl.1
Natural variantiVAR_07476941V → F in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728351 PublicationEnsembl.1
Natural variantiVAR_07477043Y → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728361 PublicationEnsembl.1
Natural variantiVAR_07477145N → Y in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728391 PublicationEnsembl.1
Natural variantiVAR_00990947G → V in LQT2. Corresponds to variant dbSNP:rs199473490Ensembl.1
Natural variantiVAR_07477249C → Y in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728401 PublicationEnsembl.1
Natural variantiVAR_07477353G → D in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734911 PublicationEnsembl.1
Natural variantiVAR_00890953G → R in LQT2. Corresponds to variant dbSNP:rs1994728422 PublicationsEnsembl.1
Natural variantiVAR_07477454Y → H in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728431 PublicationEnsembl.1
Natural variantiVAR_06825155S → L in LQT2. Corresponds to variant dbSNP:rs1994728441 PublicationEnsembl.1
Natural variantiVAR_00891056R → Q in LQT2. Corresponds to variant dbSNP:rs1994728451 PublicationEnsembl.1
Natural variantiVAR_07477557A → P in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728461 PublicationEnsembl.1
Natural variantiVAR_07477658E → A in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728471 PublicationEnsembl.1
Natural variantiVAR_07477758E → D in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734921 PublicationEnsembl.1
Natural variantiVAR_07477858E → G in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728471 PublicationEnsembl.1
Natural variantiVAR_07477964C → W in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734141 PublicationEnsembl.1
Natural variantiVAR_01437165T → P in LQT2. Corresponds to variant dbSNP:rs289330952 PublicationsEnsembl.1
Natural variantiVAR_00891166C → G in LQT2. Corresponds to variant dbSNP:rs1994734161 PublicationEnsembl.1
Natural variantiVAR_07478068F → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734171 PublicationEnsembl.1
Natural variantiVAR_07478170H → N in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734181 PublicationEnsembl.1
Natural variantiVAR_00891270H → R in LQT2. Corresponds to variant dbSNP:rs1994734193 PublicationsEnsembl.1
Natural variantiVAR_07478271G → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734201 PublicationEnsembl.1
Natural variantiVAR_07478372 – 80PRTQRRAAA → RPV in LQT2; unknown pathological significance. 1 Publication9
Natural variantiVAR_07478472P → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734211 PublicationEnsembl.1
Natural variantiVAR_00991072P → Q in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734211 PublicationEnsembl.1
Natural variantiVAR_07478574T → M in LQT2. Corresponds to variant dbSNP:rs1994734222 PublicationsEnsembl.1
Natural variantiVAR_07478674T → P in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994736661 PublicationEnsembl.1
Natural variantiVAR_07478774T → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734221 PublicationEnsembl.1
Natural variantiVAR_00891378A → P in LQT2. Corresponds to variant dbSNP:rs1994728482 PublicationsEnsembl.1
Natural variantiVAR_06825285A → V in LQT2. Corresponds to variant dbSNP:rs1994734942 PublicationsEnsembl.1
Natural variantiVAR_07478886L → P in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728511 PublicationEnsembl.1
Natural variantiVAR_00891486L → R in LQT2. Corresponds to variant dbSNP:rs1994728511 PublicationEnsembl.1
Natural variantiVAR_07478994V → G in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728521 PublicationEnsembl.1
Natural variantiVAR_036669100R → G in LQT2; digenic; the patient also carries mutation N-1819 on SCN5A. Corresponds to variant dbSNP:rs1219125151 PublicationEnsembl.1
Natural variantiVAR_068253100R → Q in LQT2. Corresponds to variant dbSNP:rs1994728552 PublicationsEnsembl.1
Natural variantiVAR_074790100R → W in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1219125151 PublicationEnsembl.1
Natural variantiVAR_074791102D → A in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728571 PublicationEnsembl.1
Natural variantiVAR_074792106F → Y in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728581 PublicationEnsembl.1
Natural variantiVAR_074793108C → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728591 PublicationEnsembl.1
Natural variantiVAR_074794114P → S in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728611 PublicationEnsembl.1
Natural variantiVAR_074795125F → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734991 PublicationEnsembl.1
Natural variantiVAR_074796141P → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728641 PublicationEnsembl.1
Natural variantiVAR_074797149G → A in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728651 PublicationEnsembl.1
Natural variantiVAR_074798164R → H in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728661 PublicationEnsembl.1
Natural variantiVAR_008915176R → W in LQT2. Corresponds to variant dbSNP:rs362104221 PublicationEnsembl.1
Natural variantiVAR_074799218M → V in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728691 PublicationEnsembl.1
Natural variantiVAR_068254238G → S in LQT2. Corresponds to variant dbSNP:rs1994735011 PublicationEnsembl.1
Natural variantiVAR_074800242R → G in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728721 PublicationEnsembl.1
Natural variantiVAR_074801251P → S in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728731 PublicationEnsembl.1
Natural variantiVAR_074802259D → N in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728761 PublicationEnsembl.1
Natural variantiVAR_074803277A → D in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728781 PublicationEnsembl.1
Natural variantiVAR_074804291M → T in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728811 PublicationEnsembl.1
Natural variantiVAR_074805301R → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728831 PublicationEnsembl.1
Natural variantiVAR_068255306G → W in LQT2. Corresponds to variant dbSNP:rs1994728841 PublicationEnsembl.1
Natural variantiVAR_009911312R → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728851 PublicationEnsembl.1
Natural variantiVAR_074806314G → S in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994735041 PublicationEnsembl.1
Natural variantiVAR_068256320S → L in LQT2. Corresponds to variant dbSNP:rs1994728861 PublicationEnsembl.1
Natural variantiVAR_074807323D → N in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728871 PublicationEnsembl.1
Natural variantiVAR_068257328R → C in LQT2. Corresponds to variant dbSNP:rs1994735052 PublicationsEnsembl.1
Natural variantiVAR_009912347P → S in LQT2. Corresponds to variant dbSNP:rs138776684Ensembl.1
Natural variantiVAR_074808402H → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994735061 PublicationEnsembl.1
Natural variantiVAR_074809410W → S in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728921 PublicationEnsembl.1
Natural variantiVAR_074684413L → P in LQT2. Corresponds to variant dbSNP:rs1994728931 PublicationEnsembl.1
Natural variantiVAR_068258420Y → C in LQT2. Corresponds to variant dbSNP:rs1994735071 PublicationEnsembl.1
Natural variantiVAR_068259421T → M in LQT2. Corresponds to variant dbSNP:rs1994728942 PublicationsEnsembl.1
Natural variantiVAR_068260422A → T in LQT2. Corresponds to variant dbSNP:rs1994728951 PublicationEnsembl.1
Natural variantiVAR_074810426P → H in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728961 PublicationEnsembl.1
Natural variantiVAR_074811427Y → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728971 PublicationEnsembl.1
Natural variantiVAR_074812427Y → H in LQT2. Corresponds to variant dbSNP:rs1994728982 PublicationsEnsembl.1
Natural variantiVAR_068261427Y → S in LQT2. Corresponds to variant dbSNP:rs1994728971 PublicationEnsembl.1
Natural variantiVAR_074813428S → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994728991 PublicationEnsembl.1
Natural variantiVAR_074814431F → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729001 PublicationEnsembl.1
Natural variantiVAR_008916436T → M in LQT2. Corresponds to variant dbSNP:rs199472901Ensembl.1
Natural variantiVAR_074815440P → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994735091 PublicationEnsembl.1
Natural variantiVAR_074685444E → D in LQT2. Corresponds to variant dbSNP:rs97700441 PublicationEnsembl.1
Natural variantiVAR_014373451P → L in LQT2. Corresponds to variant dbSNP:rs1994729022 PublicationsEnsembl.1
Natural variantiVAR_068262456D → Y in LQT2. Corresponds to variant dbSNP:rs1994735101 PublicationEnsembl.1
Natural variantiVAR_074816460D → Y in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729031 PublicationEnsembl.1
Natural variantiVAR_074817466D → Y in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994735111 PublicationEnsembl.1
Natural variantiVAR_008578470N → D in LQT2; aberrant protein folding increases the association of mutant KCNH2 with CANX and results in defective protein trafficking. Corresponds to variant dbSNP:rs1219125052 PublicationsEnsembl.1
Natural variantiVAR_074818473T → N in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729051 PublicationEnsembl.1
Natural variantiVAR_008917474T → I in LQT2. Corresponds to variant dbSNP:rs1994729061 PublicationEnsembl.1
Natural variantiVAR_074819475Y → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729071 PublicationEnsembl.1
Natural variantiVAR_068263475Missing in LQT2. 1 Publication1
Natural variantiVAR_074820476V → I in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729081 PublicationEnsembl.1
Natural variantiVAR_036671490A → T in LQT2; bradycardia-induced. Corresponds to variant dbSNP:rs289289052 PublicationsEnsembl.1
Natural variantiVAR_074821493Y → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729111 PublicationEnsembl.1
Natural variantiVAR_074822493Y → S in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729111 PublicationEnsembl.1
Natural variantiVAR_009178500 – 508Missing in LQT2. 9
Natural variantiVAR_074823501D → H in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729121 PublicationEnsembl.1
Natural variantiVAR_074824501D → N in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729121 PublicationEnsembl.1
Natural variantiVAR_036672525K → N in LQT2; located on the same allele as Pro-528. Corresponds to variant dbSNP:rs1994729131 PublicationEnsembl.1
Natural variantiVAR_036673528R → P in LQT2; located on the same allele as Asn-525. Corresponds to variant dbSNP:rs1994729141 PublicationEnsembl.1
Natural variantiVAR_009913531R → Q in LQT2. Corresponds to variant dbSNP:rs199473515Ensembl.1
Natural variantiVAR_074825531R → W in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729151 PublicationEnsembl.1
Natural variantiVAR_008579534R → C in LQT2. Corresponds to variant dbSNP:rs1994729163 PublicationsEnsembl.1
Natural variantiVAR_074826534R → L in LQT2. Corresponds to variant dbSNP:rs1994735162 PublicationsEnsembl.1
Natural variantiVAR_008918552L → S in LQT2. Corresponds to variant dbSNP:rs1994729182 PublicationsEnsembl.1
Natural variantiVAR_074827558A → E in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729191 PublicationEnsembl.1
Natural variantiVAR_008919558A → P in LQT2. Corresponds to variant dbSNP:rs1219125161 PublicationEnsembl.1
Natural variantiVAR_074686559L → H in LQT2. Corresponds to variant dbSNP:rs1994729201 PublicationEnsembl.1
Natural variantiVAR_014374561A → T in LQT2. Corresponds to variant dbSNP:rs1994729213 PublicationsEnsembl.1
Natural variantiVAR_008580561A → V in LQT2; the mutation reduces wild-type channel expression. Corresponds to variant dbSNP:rs1219125044 PublicationsEnsembl.1
Natural variantiVAR_068264562H → P in LQT2. Corresponds to variant dbSNP:rs1994729221 PublicationEnsembl.1
Natural variantiVAR_074828562H → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729221 PublicationEnsembl.1
Natural variantiVAR_008920564L → P in LQT2. Corresponds to variant dbSNP:rs199472924Ensembl.1
Natural variantiVAR_074829565A → T in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994735181 PublicationEnsembl.1
Natural variantiVAR_074830566C → S in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729251 PublicationEnsembl.1
Natural variantiVAR_074831568W → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729271 PublicationEnsembl.1
Natural variantiVAR_008921569Y → H in LQT2. Corresponds to variant dbSNP:rs1994735201 PublicationEnsembl.1
Natural variantiVAR_068265571I → L in LQT2. Corresponds to variant dbSNP:rs1994729281 PublicationEnsembl.1
Natural variantiVAR_074832571I → V in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729281 PublicationEnsembl.1
Natural variantiVAR_008923572G → C in LQT2. Corresponds to variant dbSNP:rs93336491 PublicationEnsembl.1
Natural variantiVAR_074833572G → D in LQT2. Corresponds to variant dbSNP:rs1994734232 PublicationsEnsembl.1
Natural variantiVAR_008922572G → R in LQT2; severe form. Corresponds to variant dbSNP:rs93336491 PublicationEnsembl.1
Natural variantiVAR_068266572G → S in LQT2. Corresponds to variant dbSNP:rs93336492 PublicationsEnsembl.1
Natural variantiVAR_074834572G → V in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734231 PublicationEnsembl.1
Natural variantiVAR_008581582R → C in LQT2. Corresponds to variant dbSNP:rs1219125083 PublicationsEnsembl.1
Natural variantiVAR_074835582R → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734261 PublicationEnsembl.1
Natural variantiVAR_074836584G → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734281 PublicationEnsembl.1
Natural variantiVAR_008924584G → S in LQT2. Corresponds to variant dbSNP:rs1994734283 PublicationsEnsembl.1
Natural variantiVAR_009914585W → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994734301 PublicationEnsembl.1
Natural variantiVAR_008925588N → D in LQT2. Corresponds to variant dbSNP:rs1994734312 PublicationsEnsembl.1
Natural variantiVAR_074837593I → K in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs289289041 PublicationEnsembl.1
Natural variantiVAR_008582593I → R in LQT2. Corresponds to variant dbSNP:rs289289041 PublicationEnsembl.1
Natural variantiVAR_009915593I → T in LQT2. Corresponds to variant dbSNP:rs28928904Ensembl.1
Natural variantiVAR_074838594G → D in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729311 PublicationEnsembl.1
Natural variantiVAR_074839596P → H in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729331 PublicationEnsembl.1
Natural variantiVAR_074840596P → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729331 PublicationEnsembl.1
Natural variantiVAR_068267596P → R in LQT2. Corresponds to variant dbSNP:rs1994729331 PublicationEnsembl.1
Natural variantiVAR_074841597Y → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729341 PublicationEnsembl.1
Natural variantiVAR_074842599S → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729351 PublicationEnsembl.1
Natural variantiVAR_074843601G → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729361 PublicationEnsembl.1
Natural variantiVAR_008926601G → S in LQT2. Corresponds to variant dbSNP:rs1994729363 PublicationsEnsembl.1
Natural variantiVAR_008927604G → S in LQT2. Corresponds to variant dbSNP:rs1994735223 PublicationsEnsembl.1
Natural variantiVAR_074844605P → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729381 PublicationEnsembl.1
Natural variantiVAR_074845605P → S in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729391 PublicationEnsembl.1
Natural variantiVAR_074846609D → G in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729401 PublicationEnsembl.1
Natural variantiVAR_074847609D → H in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729411 PublicationEnsembl.1
Natural variantiVAR_009916609D → N in LQT2. Corresponds to variant dbSNP:rs199472941Ensembl.1
Natural variantiVAR_008928611Y → H in LQT2. Corresponds to variant dbSNP:rs1994729421 PublicationEnsembl.1
Natural variantiVAR_008929612V → L in LQT2. Corresponds to variant dbSNP:rs1994729431 PublicationEnsembl.1
Natural variantiVAR_008930613T → M in LQT2. Corresponds to variant dbSNP:rs1994735244 PublicationsEnsembl.1
Natural variantiVAR_008931614A → V in LQT2. Corresponds to variant dbSNP:rs1994729445 PublicationsEnsembl.1
Natural variantiVAR_074848615L → F in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729451 PublicationEnsembl.1
Natural variantiVAR_014375615L → V in LQT2. Corresponds to variant dbSNP:rs199472945Ensembl.1
Natural variantiVAR_074849616Y → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729461 PublicationEnsembl.1
Natural variantiVAR_074850621S → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729491 PublicationEnsembl.1
Natural variantiVAR_068268622L → F in LQT2. Corresponds to variant dbSNP:rs1994735251 PublicationEnsembl.1
Natural variantiVAR_068269623T → I in LQT2. Corresponds to variant dbSNP:rs1994729501 PublicationEnsembl.1
Natural variantiVAR_074851626G → A in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729521 PublicationEnsembl.1
Natural variantiVAR_074852626G → D in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729521 PublicationEnsembl.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. Corresponds to variant dbSNP:rs1219125073 PublicationsEnsembl.1
Natural variantiVAR_068270628G → V in LQT2. Corresponds to variant dbSNP:rs1994729551 PublicationEnsembl.1
Natural variantiVAR_008932629N → D in LQT2. Corresponds to variant dbSNP:rs1994729561 PublicationEnsembl.1
Natural variantiVAR_074853629N → I in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729571 PublicationEnsembl.1
Natural variantiVAR_008933629N → K in LQT2. Corresponds to variant dbSNP:rs413072951 PublicationEnsembl.1
Natural variantiVAR_009179629N → S in LQT2. Corresponds to variant dbSNP:rs1994729572 PublicationsEnsembl.1
Natural variantiVAR_008935630V → A in LQT2. Corresponds to variant dbSNP:rs1994735262 PublicationsEnsembl.1
Natural variantiVAR_008934630V → L in LQT2. Corresponds to variant dbSNP:rs1994729581 PublicationEnsembl.1
Natural variantiVAR_014378632P → S in LQT2. Corresponds to variant dbSNP:rs199473527Ensembl.1
Natural variantiVAR_008936633N → S in LQT2. Corresponds to variant dbSNP:rs1994729612 PublicationsEnsembl.1
Natural variantiVAR_074854634T → I in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729621 PublicationEnsembl.1
Natural variantiVAR_074855635N → D in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729631 PublicationEnsembl.1
Natural variantiVAR_068271635N → I in LQT2. Corresponds to variant dbSNP:rs1994729641 PublicationEnsembl.1
Natural variantiVAR_074856635N → K in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729651 PublicationEnsembl.1
Natural variantiVAR_074857637E → D in LQT2. Corresponds to variant dbSNP:rs1994729662 PublicationsEnsembl.1
Natural variantiVAR_014379637E → K in LQT2. Corresponds to variant dbSNP:rs1994729681 PublicationEnsembl.1
Natural variantiVAR_014380638K → E in LQT2. Corresponds to variant dbSNP:rs199473528Ensembl.1
Natural variantiVAR_074858638K → N in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729691 PublicationEnsembl.1
Natural variantiVAR_014381638Missing in LQT2; unknown pathological significance. 1 Publication1
Natural variantiVAR_008937640F → L in LQT2. Corresponds to variant dbSNP:rs1994729701 PublicationEnsembl.1
Natural variantiVAR_068272640F → V in LQT2. Corresponds to variant dbSNP:rs1994735291 PublicationEnsembl.1
Natural variantiVAR_068273641S → F in LQT2. Corresponds to variant dbSNP:rs1994729711 PublicationEnsembl.1
Natural variantiVAR_074859644V → F in LQT2. Corresponds to variant dbSNP:rs1994729722 PublicationsEnsembl.1
Natural variantiVAR_074860644V → L in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729721 PublicationEnsembl.1
Natural variantiVAR_074861645M → I in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729731 PublicationEnsembl.1
Natural variantiVAR_014382645M → L in LQT2. Corresponds to variant dbSNP:rs199472974Ensembl.1
Natural variantiVAR_074862648G → S in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729751 PublicationEnsembl.1
Natural variantiVAR_074863656F → C in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729771 PublicationEnsembl.1
Natural variantiVAR_074864657G → R in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729781 PublicationEnsembl.1
Natural variantiVAR_074865660S → L in LQT2. Corresponds to variant dbSNP:rs1994729792 PublicationsEnsembl.1
Natural variantiVAR_074866662I → T in LQT2; unknown pathological significance. Corresponds to variant dbSNP:rs1994729801 PublicationEnsembl.