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

1 paper

NM_000238.4

p.G496D

c.1487G>A

Surrounding Variants

1 paper

NM_000238.4

p.G496V

c.1487G>T

1 paper

NM_000238.4

p.G496A

c.1487G>C

1 paper

NM_000238.4

p.G496C

c.1486G>T

2 papers

NM_000238.4

p.G496R

c.1486G>C

1 paper

NM_000238.4

p.G496S

c.1486G>A

1 paper

NM_000238.4

p.W497G

c.1489T>G

1 paper

NM_000238.4

p.W497R

c.1489T>C

1 paper

NM_000238.4

p.W497R

c.1489T>A

1 paper

NM_000238.4

p.K495N

c.1485G>T

1 paper

NM_000238.4

p.K495N

c.1485G>C

1 paper

NM_000238.4

p.K495delFs

c.1483_1484delTT

8 papers

NM_000238.4

p.W497L

c.1490G>T