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

13 papers

NM_000238.4

p.G626A

c.1877G>C

Surrounding Variants

11 papers

NM_000238.4

p.G626V

c.1877G>T

7 papers

NM_000238.4

p.G626D

c.1877G>A

1 paper

NM_000238.4

p.G626R

c.1876G>C

10 papers

NM_000238.4

p.G626S

c.1876G>A

1 paper

NM_000238.4

p.V625delFs

c.1874_1875delCA

2 papers

NM_000238.4

p.G626delFs

c.1877delC

1 paper

NM_000238.4

p.G626fs

c.1876_1877fs

1 paper

NM_000238.4

p.G626_F627ins1

c.1878_1879insCCT

16 papers

NM_000238.4

p.F627L

c.1879T>C

2 papers

NM_000238.4

p.F627I

c.1879T>A

1 paper

NM_000238.4

p.V625delFs

c.1874delA

30 papers

NM_000238.4

p.V625A

c.1874T>C