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

1–12 of 3755 variants

275 papers

NM_000238.4

p.K897T

c.2690A>C

205 papers

NM_000238.4

p.N588K

c.1764C>A

204 papers

NM_000238.4

p.N588K

c.1764C>G

150 papers

NM_000238.4

p.A561V

c.1682C>T

143 papers

NM_000238.4

p.G601S

c.1801G>A

132 papers

NM_000238.4

p.G628S

c.1882G>A

123 papers

NM_000238.4

p.R176W

c.526C>T

120 papers

NM_000238.4

p.S631A

c.1891T>G

112 papers

NM_000238.4

p.A614V

c.1841C>T

103 papers

NM_000238.4

p.N470D

c.1408A>G

88 papers

NM_000238.4

p.S620T

c.1859G>C

86 papers

NM_000238.4

p.A561T

c.1681G>A