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

4 papers

NM_000238.4

p.S783P

c.2347T>C

Surrounding Variants

1 paper

NM_000238.4

p.I782del1

c.2344_2345delGAT

1 paper

NM_000238.4

p.I782_S783del1

c.2345_2347delAGA

1 paper

NM_000238.4

p.I782T

c.2345T>C

1 paper

NM_000238.4

p.I782delFs

c.2345_2346delGA

1 paper

NM_000238.4

p.R784fs

c.2350_2351fs

28 papers

NM_000238.4

p.R784W

c.2350C>T

1 paper

NM_000238.4

p.I782_S783del2

c.2344_2348del6

1 paper

NM_000238.4

p.R784L

c.2351G>T

1 paper

NM_000238.4

p.R784delFs

c.2350delG

3 papers

NM_000238.4

p.G785S

c.2353G>A

9 papers

NM_000238.4

p.G785V

c.2354G>T

1 paper

NM_000238.4

p.G785A

c.2354G>C