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

9 papers

NM_000238.4

p.W563G

c.1687T>G

Surrounding Variants

1 paper

NM_000238.4

p.W563R

c.1687T>C

1 paper

NM_000238.4

p.W563R

c.1687T>A

5 papers

NM_000238.4

p.W563*

c.1688G>A

5 papers

NM_000238.4

p.H562Q

c.1686C>G

5 papers

NM_000238.4

p.H562Q

c.1686C>A

12 papers

NM_000238.4

p.W563C

c.1689G>T

12 papers

NM_000238.4

p.W563C

c.1689G>C

4 papers

NM_000238.4

p.W563*

c.1689G>A

18 papers

NM_000238.4

p.H562R

c.1685A>G

17 papers

NM_000238.4

p.H562P

c.1685A>C

3 papers

NM_000238.4

p.H562Y

c.1684C>T

3 papers

NM_000238.4

p.H562N

c.1684C>A