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.G590S

c.1768G>A

Surrounding Variants

3 papers

NM_000238.4

p.G590C

c.1768G>T

8 papers

NM_000238.4

p.G590V

c.1769G>T

3 papers

NM_000238.4

p.G590D

c.1769G>A

6 papers

NM_000238.4

p.L589P

c.1766T>C

3 papers

NM_000238.4

p.D591H

c.1771G>C

3 papers

NM_000238.4

p.D591N

c.1771G>A

2 papers

NM_000238.4

p.L589L

c.1765C>T

204 papers

NM_000238.4

p.N588K

c.1764C>G

205 papers

NM_000238.4

p.N588K

c.1764C>A

2 papers

NM_000238.4

p.D591G

c.1772A>G

6 papers

NM_000238.4

p.D591A

c.1772A>C

1 paper

NM_000238.4

p.Q592fs

c.1774_1775fs