Varaico: Literature-Extracted Genetic Variants

KCNH2

2,373 papers

RefSeq Summary

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to f...

Pfam Domains

PAS_9aa 29–130UCSCPAS domain

Ion_transaa 407–671UCSCIon transport protein

cNMP_bindingaa 760–845UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 2

HGNC Previous Symbol

LQT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000238.4

p.P1122delFs

c.3365_3366delCG

Surrounding Variants

1 paper

NM_000238.4

p.G1123R

c.3367G>C

1 paper

NM_000238.4

p.P1122_G1123insFs

c.3366_3367insC

2 papers

NM_000238.4

p.P1122fs

c.3364_3365fs

1 paper

NM_000238.4

p.P1122_G1123del1

c.3365_3367delCCG

1 paper

NM_000238.4

p.P1122delFs

c.3365delG

2 papers

NM_000238.4

p.P1122L

c.3365C>T

1 paper

NM_000238.4

p.P1122R

c.3365C>G

1 paper

NM_000238.4

p.P1122fs

c.3364_3365fs

1 paper

NM_000238.4

p.A1124delFs

c.3370delC

1 paper

NM_000238.4

p.A1124fs

c.3370_3371fs

2 papers

NM_000238.4

p.E1126fs

c.3376_3377fs

1 paper

NM_000238.4

p.E1126G

c.3377A>G