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.G236D

c.707G>A

Surrounding Variants

3 papers

NM_000238.4

p.G236V

c.707G>T

1 paper

NM_000238.4

p.V235delFs

c.705delC

1 paper

NM_000238.4

p.G236S

c.706G>A

2 papers

NM_000238.4

p.V235A

c.704T>C

2 papers

NM_000238.4

p.P237H

c.710C>A

4 papers

NM_000238.4

p.G238C

c.712G>T

2 papers

NM_000238.4

p.G238R

c.712G>C

6 papers

NM_000238.4

p.G238S

c.712G>A

1 paper

NM_000238.4

p.G238D

c.713G>A

1 paper

NM_000238.4

p.N220_A233del14

c.658_698del42

3 papers

NM_000238.4

p.S239P

c.715T>C

1 paper

NM_000238.4

p.S239fs

c.715_716fs