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

9 papers

NM_000238.4

p.Y420C

c.1259A>G

Surrounding Variants

1 paper

NM_000238.4

p.Y420S

c.1259A>C

1 paper

NM_000238.4

p.Y420insFs

c.1258_1259insA

1 paper

NM_000238.4

p.Y420fs

c.1258_1259fs

1 paper

NM_000238.4

p.T421A

c.1261A>G

18 papers

NM_000238.4

p.T421M

c.1262C>T

1 paper

NM_000238.4

p.T421R

c.1262C>G

2 papers

NM_000238.4

p.T421K

c.1262C>A

2 papers

NM_000238.4

p.T421delFs

c.1261delT

1 paper

NM_172057.3

p.I79_T81delFs

c.235_242del8

33 papers

NM_000238.4

p.A422T

c.1264G>A

1 paper

NM_000238.4

p.V418A

c.1253T>C

1 paper

NM_000238.4

p.A422V

c.1265C>T