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

64 papers

NM_000238.4

p.R752W

c.2254C>T

Surrounding Variants

6 papers

NM_000238.4

p.R752P

c.2255G>C

10 papers

NM_000238.4

p.R752Q

c.2255G>A

5 papers

NM_000238.4

p.A753S

c.2257G>T

1 paper

NM_000238.4

p.C750S

c.2249G>C

1 paper

NM_000238.4

p.C750G

c.2248T>G

2 papers

NM_000238.4

p.C750R

c.2248T>C

1 paper

NM_000238.4

p.C750S

c.2248T>A

1 paper

NM_000238.4

p.G749del1

c.2245_2246delGCC

2 papers

NM_000238.4

p.G749delFs

c.2246delC

5 papers

NM_000238.4

p.G749V

c.2246G>T

4 papers

NM_000238.4

p.G749A

c.2246G>C

1 paper

NM_000238.4

p.G749Fs

c.2245delinsTTTFs