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

32 papers

NM_000238.4

p.R328C

c.982C>T

Surrounding Variants

1 paper

NM_000238.4

p.R328G

c.982C>G

3 papers

NM_000238.4

p.R328S

c.982C>A

3 papers

NM_000238.4

p.R328H

c.983G>A

3 papers

NM_000238.4

p.Y327*

c.981C>G

2 papers

NM_000238.4

p.Y327*

c.981C>A

1 paper

NM_000238.4

p.R328R

c.984C>T

2 papers

NM_000238.4

p.Y327C

c.980A>G

2 papers

NM_000238.4

p.Y327H

c.979T>C

3 papers

NM_000238.4

p.T329A

c.985A>G

1 paper

NM_000238.4

p.R326fs

c.976_977fs

2 papers

NM_000238.4

p.R326H

c.977G>A

2 papers

NM_000238.4

p.R326C

c.976C>T