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.G314C

c.940G>T

Surrounding Variants

1 paper

NM_000238.4

p.G314R

c.940G>C

24 papers

NM_000238.4

p.G314S

c.940G>A

1 paper

NM_000238.4

p.G314V

c.941G>T

3 papers

NM_000238.4

p.G314A

c.941G>C

3 papers

NM_000238.4

p.G314D

c.941G>A

1 paper

NM_000238.4

p.S313R

c.939C>G

2 papers

NM_000238.4

p.S313R

c.939C>A

1 paper

NM_000238.4

p.S313R

c.937A>C

1 paper

NM_000238.4

p.L315S

c.944T>C

2 papers

NM_000238.4

p.R312L

c.935G>T

2 papers

NM_000238.4

p.R312P

c.935G>C

3 papers

NM_000238.4

p.R312H

c.935G>A