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

1 paper

NM_000238.4

p.V198L

c.592G>C

Surrounding Variants

1 paper

NM_000238.4

p.V198L

c.592G>T

3 papers

NM_000238.4

p.V198E

c.593T>A

2 papers

NM_000238.4

p.D197E

c.591C>G

2 papers

NM_000238.4

p.D197E

c.591C>A

3 papers

NM_000238.4

p.V198V

c.594G>C

2 papers

NM_000238.4

p.D197V

c.590A>T

3 papers

NM_000238.4

p.D197Y

c.589G>T

2 papers

NM_000238.4

p.D197N

c.589G>A

1 paper

NM_000238.4

p.D199E

c.597C>G

1 paper

NM_000238.4

p.D199_L200insFs

c.597_598ins4

1 paper

NM_000238.4

p.D199E

c.597C>A

1 paper

NM_000238.4

p.V196M

c.586G>A