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

2 papers

NM_000238.4

p.G189V

c.566G>T

Surrounding Variants

3 papers

NM_000238.4

p.G189A

c.566G>C

3 papers

NM_000238.4

p.G189R

c.565G>C

1 paper

NM_000238.4

p.A188delFs

c.563_564delCG

1 paper

NM_000238.4

p.G186_G189delins

c.558_565delinsTTCGC

2 papers

NM_000238.4

p.A190S

c.568G>T

10 papers

NM_000238.4

p.A190T

c.568G>A

2 papers

NM_000238.4

p.A188V

c.563C>T

1 paper

NM_000238.4

p.A190V

c.569C>T

1 paper

NM_000238.4

p.A190ins3

c.569_570ins9

4 papers

NM_000238.4

p.G187_A190del0

c.560_568del9

1 paper

NM_000238.4

p.A188insFs

c.562_563insA

2 papers

NM_000238.4

p.A188T

c.562G>A