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.L87V

c.259C>G

Surrounding Variants

1 paper

NM_000238.4

p.L87R

c.260T>G

11 papers

NM_000238.4

p.L87P

c.260T>C

19 papers

NM_000238.4

p.L86R

c.257T>G

5 papers

NM_000238.4

p.L86P

c.257T>C

1 paper

NM_000238.4

p.G88S

c.262G>A

2 papers

NM_000238.4

p.G88D

c.263G>A

7 papers

NM_000238.4

p.A85V

c.254C>T

1 paper

NM_000238.4

p.I82_Q84ins1

c.244_252dup9

5 papers

NM_000238.4

p.A85P

c.253G>C

3 papers

NM_000238.4

p.A85T

c.253G>A

1 paper

NM_000238.4

p.T74_Q84insFs

c.221_251dup31

1 paper

NM_000238.4

p.T74_Q84delFs

c.221_251del31