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

12 papers

NM_000238.4

p.G306W

c.916G>T

Surrounding Variants

9 papers

NM_000238.4

p.G306R

c.916G>C

9 papers

NM_000238.4

p.G306R

c.916G>A

7 papers

NM_000238.4

p.G306V

c.917G>T

2 papers

NM_000238.4

p.G306E

c.917G>A

1 paper

NM_000238.4

p.G306Splc

c.917-3T>C

1 paper

NM_000238.4

p.A307P

c.919G>C

3 papers

NM_000238.4

p.A307T

c.919G>A

1 paper

NM_000238.4

p.A307delFs

c.919delC

4 papers

NM_000238.4

p.M308V

c.922A>G

2 papers

NM_000238.4

p.M308R

c.923T>G

2 papers

NM_000238.4

p.M308T

c.923T>C

1 paper

NM_000238.4

p.M308K

c.923T>A