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.E95insFs

c.283_284insGT

Surrounding Variants

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.E95K

c.283G>A

2 papers

NM_000238.4

p.E95D

c.285A>T

8 papers

NM_000238.4

p.I96V

c.286A>G

7 papers

NM_000238.4

p.V94G

c.281T>G

18 papers

NM_000238.4

p.I96T

c.287T>C

1 paper

NM_000238.4

p.V94A

c.281T>C

4 papers

NM_000238.4

p.V94L

c.280G>T

3 papers

NM_000238.4

p.V94L

c.280G>C

4 papers

NM_000238.4

p.V94M

c.280G>A