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

3 papers

NM_000238.4

p.T305S

c.913A>T

Surrounding Variants

1 paper

NM_000238.4

p.T305A

c.913A>G

3 papers

NM_000238.4

p.T305S

c.914C>G

3 papers

NM_000238.4

p.S304R

c.912C>G

3 papers

NM_000238.4

p.S304R

c.912C>A

2 papers

NM_000238.4

p.S304I

c.911G>T

1 paper

NM_000238.4

p.S304N

c.911G>A

7 papers

NM_000238.4

p.G306W

c.916G>T

3 papers

NM_000238.4

p.G306R

c.916G>C

1 paper

NM_000238.4

p.G306R

c.916G>A

3 papers

NM_000238.4

p.S304R

c.910A>C

1 paper

NM_000238.4

p.A303delFs

c.908delG

2 papers

NM_000238.4

p.G306Splc

c.916+1G>T