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.Q376H

c.1128G>T

Surrounding Variants

1 paper

NM_000238.4

p.Q376H

c.1128G>C

13 papers

NM_000238.4

p.Q376Q

c.1128G>A

1 paper

NM_000238.4

p.Q376_V377Splc

c.1128+1G>T

1 paper

NM_000238.4

p.Q376_V377Splc

c.1128+1G>A

1 paper

NM_000238.4

p.Q376R

c.1127A>G

2 papers

NM_000238.4

p.Q376E

c.1126C>G

1 paper

NM_000238.4

p.T375I

c.1124C>T

2 papers

NM_000238.4

p.T375A

c.1123A>G

2 papers

NM_000238.4

p.Q376_V377Splc

c.1128+6C>T

1 paper

NM_000238.4

p.Q376_V377Splc

c.1128+7G>A

3 papers

NM_000238.4

p.V374F

c.1120G>T

1 paper

NM_000238.4

p.E372delFs

c.1114delC