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

8 papers

NM_000238.4

p.I96V

c.286A>G

Surrounding Variants

18 papers

NM_000238.4

p.I96T

c.287T>C

2 papers

NM_000238.4

p.E95D

c.285A>T

7 papers

NM_000238.4

p.E95G

c.284A>G

2 papers

NM_000238.4

p.E95A

c.284A>C

2 papers

NM_000238.4

p.E95insFs

c.283_284insG

1 paper

NM_000238.4

p.E95insFs

c.283_284insGT

1 paper

NM_000238.4

p.A97S

c.289G>T

4 papers

NM_000238.4

p.A97P

c.289G>C

2 papers

NM_000238.4

p.A97T

c.289G>A

1 paper

NM_000238.4

p.E95K

c.283G>A

1 paper

NM_000238.4

p.A97V

c.290C>T

2 papers

NM_000238.4

p.A97G

c.290C>G