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

11 papers

NM_000238.4

p.G584V

c.1751G>T

Surrounding Variants

1 paper

NM_000238.4

p.G584A

c.1751G>C

12 papers

NM_000238.4

p.G584C

c.1750G>T

8 papers

NM_000238.4

p.G584R

c.1750G>C

58 papers

NM_000238.4

p.G584S

c.1750G>A

2 papers

NM_000238.4

p.G584delins

c.1751_1752delinsTG

3 papers

NM_000238.4

p.I583M

c.1749C>G

2 papers

NM_000238.4

p.W585L

c.1754G>T

1 paper

NM_000238.4

p.W585S

c.1754G>C

2 papers

NM_000238.4

p.W585*

c.1754G>A

11 papers

NM_000238.4

p.W585C

c.1755G>T

10 papers

NM_000238.4

p.W585C

c.1755G>C

2 papers

NM_000238.4

p.W585*

c.1755G>A