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.D609Y

c.1825G>T

Surrounding Variants

7 papers

NM_000238.4

p.D609H

c.1825G>C

15 papers

NM_000238.4

p.D609N

c.1825G>A

2 papers

NM_000238.4

p.K608N

c.1824G>T

2 papers

NM_000238.4

p.K608N

c.1824G>C

8 papers

NM_000238.4

p.D609G

c.1826A>G

6 papers

NM_000238.4

p.D609A

c.1826A>C

1 paper

NM_000238.4

p.D609E

c.1827C>G

1 paper

NM_000238.4

p.D609E

c.1827C>A

1 paper

NM_000238.4

p.K608R

c.1823A>G

1 paper

NM_000238.4

p.K610E

c.1828A>G

1 paper

NM_000238.4

p.I607M

c.1821C>G

2 papers

NM_000238.4

p.K610R

c.1829A>G