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.R159H

c.476G>A

Surrounding Variants

1 paper

NM_000238.4

p.R159C

c.475C>T

2 papers

NM_000238.4

p.R159insFs

c.475_476ins4

2 papers

NM_000238.4

p.R159fs

c.475_476fs

2 papers

NM_000238.4

p.A160S

c.478G>T

2 papers

NM_000238.4

p.G158D

c.473G>A

1 paper

NM_000238.4

p.A160A

c.480C>T

1 paper

NM_000238.4

p.A160A

c.480C>G

1 paper

NM_000238.4

p.K161fs

c.481_482fs

1 paper

NM_000238.4

p.G158Splc

c.473-2A>T

1 paper

NM_000238.4

p.A160insFs

c.480dupC

1 paper

NM_000238.4

p.G158Splc

c.473-4G>A

2 papers

NM_000238.4

p.T162S

c.484A>T