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.F617I

c.1849T>A

Surrounding Variants

5 papers

NM_000238.4

p.F617V

c.1849T>G

10 papers

NM_000238.4

p.F617L

c.1849T>C

1 paper

NM_000238.4

p.F617Y

c.1850T>A

1 paper

NM_000238.4

p.Y616Y

c.1848C>T

2 papers

NM_000238.4

p.Y616*

c.1848C>G

2 papers

NM_000238.4

p.Y616*

c.1848C>A

10 papers

NM_000238.4

p.F617L

c.1851C>G

10 papers

NM_000238.4

p.F617L

c.1851C>A

7 papers

NM_000238.4

p.Y616F

c.1847A>T

12 papers

NM_000238.4

p.Y616C

c.1847A>G

2 papers

NM_000238.4

p.Y616S

c.1847A>C

2 papers

NM_000238.4

p.Y616N

c.1846T>A