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

1 paper

NM_000238.4

p.A561G

c.1682C>G

Surrounding Variants

150 papers

NM_000238.4

p.A561V

c.1682C>T

1 paper

NM_000238.4

p.I560_A561del1

c.1679_1681delCGA

1 paper

NM_000238.4

p.A561A

c.1683G>T

1 paper

NM_000238.4

p.A561_H562ins1

c.1683_1684insAGC

25 papers

NM_000238.4

p.A561P

c.1681G>C

86 papers

NM_000238.4

p.A561T

c.1681G>A

3 papers

NM_000238.4

p.H562Y

c.1684C>T

1 paper

NM_000238.4

p.I560M

c.1680C>G

1 paper

NM_000238.4

p.I560fs

c.1678_1679fs

3 papers

NM_000238.4

p.H562N

c.1684C>A

13 papers

NM_000238.4

p.I560T

c.1679T>C

18 papers

NM_000238.4

p.H562R

c.1685A>G