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.T201K

c.602C>A

Surrounding Variants

3 papers

NM_000238.4

p.T201M

c.602C>T

2 papers

NM_000238.4

p.T201T

c.603G>C

3 papers

NM_000238.4

p.T201T

c.603G>A

1 paper

NM_000238.4

p.L200L

c.600G>T

2 papers

NM_000238.4

p.L200fs

c.598_599fs

3 papers

NM_000238.4

p.P202L

c.605C>T

2 papers

NM_000238.4

p.L200V

c.598C>G

1 paper

NM_000238.4

p.P202P

c.606C>G

4 papers

NM_000238.4

p.A203T

c.607G>A

1 paper

NM_000238.4

p.D199E

c.597C>G

1 paper

NM_000238.4

p.D199_L200insFs

c.597_598ins4

1 paper

NM_000238.4

p.D199E

c.597C>A