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.V195G

c.584T>G

Surrounding Variants

1 paper

NM_000238.4

p.V195V

c.585G>A

1 paper

NM_000238.4

p.A193_V194delFs

c.578_582del5

1 paper

NM_000238.4

p.V196M

c.586G>A

1 paper

NM_000238.4

p.V194L

c.580G>T

2 papers

NM_000238.4

p.V194L

c.580G>C

3 papers

NM_000238.4

p.V194M

c.580G>A

3 papers

NM_000238.4

p.D197Y

c.589G>T

2 papers

NM_000238.4

p.D197N

c.589G>A

4 papers

NM_000238.4

p.A193V

c.578C>T

3 papers

NM_000238.4

p.G192delFs

c.576delC

2 papers

NM_000238.4

p.D197V

c.590A>T

2 papers

NM_000238.4

p.D197E

c.591C>G