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.F619V

c.1855T>G

Surrounding Variants

2 papers

NM_000238.4

p.F619L

c.1855T>C

1 paper

NM_000238.4

p.F619I

c.1855T>A

1 paper

NM_000238.4

p.F619C

c.1856T>G

1 paper

NM_000238.4

p.F619S

c.1856T>C

1 paper

NM_000238.4

p.F619Y

c.1856T>A

51 papers

NM_000238.4

p.T618I

c.1853C>T

12 papers

NM_000238.4

p.T618S

c.1853C>G

2 papers

NM_000238.4

p.F619L

c.1857C>G

2 papers

NM_000238.4

p.F619L

c.1857C>A

1 paper

NM_000238.4

p.T618N

c.1853C>A

12 papers

NM_000238.4

p.T618S

c.1852A>T

9 papers

NM_000238.4

p.S620C

c.1858A>T