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.G514R

c.1540G>C

Surrounding Variants

5 papers

NM_000238.4

p.G514C

c.1540G>T

2 papers

NM_000238.4

p.G514S

c.1540G>A

1 paper

NM_000238.4

p.G514V

c.1541G>T

2 papers

NM_000238.4

p.G514A

c.1541G>C

2 papers

NM_000238.4

p.G514D

c.1541G>A

18 papers

NM_000238.4

p.F513F

c.1539C>T

3 papers

NM_000238.4

p.F513L

c.1539C>G

3 papers

NM_000238.4

p.F513L

c.1539C>A

2 papers

NM_000238.4

p.F513C

c.1538T>G

1 paper

NM_000238.4

p.F513S

c.1538T>C

1 paper

NM_000238.4

p.F513Y

c.1538T>A

1 paper

NM_000238.4

p.S515A

c.1543T>G