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

205 papers

NM_000238.4

p.N588K

c.1764C>A

Surrounding Variants

204 papers

NM_000238.4

p.N588K

c.1764C>G

2 papers

NM_000238.4

p.L589L

c.1765C>T

6 papers

NM_000238.4

p.L589P

c.1766T>C

25 papers

NM_000238.4

p.N588D

c.1762A>G

1 paper

NM_000238.4

p.H587Q

c.1761C>G

1 paper

NM_000238.4

p.H587Q

c.1761C>A

3 papers

NM_000238.4

p.G590C

c.1768G>T

2 papers

NM_000238.4

p.G590S

c.1768G>A

2 papers

NM_000238.4

p.H587P

c.1760A>C

8 papers

NM_000238.4

p.G590V

c.1769G>T

3 papers

NM_000238.4

p.G590D

c.1769G>A

1 paper

NM_000238.4

p.H587Y

c.1759C>T