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.D501E

c.1503C>A

Surrounding Variants

2 papers

NM_000238.4

p.D501E

c.1503C>G

3 papers

NM_000238.4

p.M502L

c.1504A>T

1 paper

NM_000238.4

p.D501V

c.1502A>T

11 papers

NM_000238.4

p.D501G

c.1502A>G

1 paper

NM_000238.4

p.M502V

c.1504A>G

6 papers

NM_000238.4

p.D501A

c.1502A>C

4 papers

NM_000238.4

p.M502L

c.1504A>C

1 paper

NM_000238.4

p.M502R

c.1505T>G

2 papers

NM_000238.4

p.M502T

c.1505T>C

1 paper

NM_000238.4

p.M502K

c.1505T>A

3 papers

NM_000238.4

p.D501Y

c.1501G>T

11 papers

NM_000238.4

p.D501H

c.1501G>C