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

16 papers

NM_000238.4

p.F627L

c.1879T>C

Surrounding Variants

1 paper

NM_000238.4

p.G626_F627ins1

c.1878_1879insCCT

2 papers

NM_000238.4

p.F627I

c.1879T>A

12 papers

NM_000238.4

p.F627Y

c.1880T>A

2 papers

NM_000238.4

p.G626delFs

c.1877delC

11 papers

NM_000238.4

p.G626V

c.1877G>T

13 papers

NM_000238.4

p.G626A

c.1877G>C

7 papers

NM_000238.4

p.G626D

c.1877G>A

2 papers

NM_000238.4

p.F627F

c.1881C>T

15 papers

NM_000238.4

p.F627L

c.1881C>G

15 papers

NM_000238.4

p.F627L

c.1881C>A

43 papers

NM_000238.4

p.G628C

c.1882G>T

1 paper

NM_000238.4

p.G628_N629insCTC

c.1882_1886ins9