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.P405A

c.1213C>G

Surrounding Variants

1 paper

NM_000238.4

p.P405S

c.1213C>T

3 papers

NM_000238.4

p.P405L

c.1214C>T

1 paper

NM_172057.3

p.P65R

c.194C>G

1 paper

NM_172057.3

p.F66V

c.196T>G

1 paper

NM_172057.3

p.F66I

c.196T>A

1 paper

NM_000238.4

p.Y403C

c.1208A>G

2 papers

NM_000238.4

p.K407E

c.1219A>G

12 papers

NM_000238.4

p.H402R

c.1205A>G

1 paper

NM_000238.4

p.L401L

c.1203G>A

1 paper

NM_000238.4

p.A408V

c.1223C>T

1 paper

NM_000238.4

p.L401insFs

c.1202_1203insC

4 papers

NM_000238.4

p.V409L

c.1225G>T