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.V625fs

c.1873_1874fs

Surrounding Variants

1 paper

NM_000238.4

p.V625L

c.1873G>T

1 paper

NM_000238.4

p.V625insFs

c.1873_1874insA

1 paper

NM_000238.4

p.V625L

c.1873G>C

1 paper

NM_000238.4

p.V625M

c.1873G>A

2 papers

NM_000238.4

p.S624R

c.1872T>G

30 papers

NM_000238.4

p.V625A

c.1874T>C

8 papers

NM_000238.4

p.V625E

c.1874T>A

2 papers

NM_000238.4

p.S624R

c.1872T>A

1 paper

NM_000238.4

p.S624I

c.1871G>T

11 papers

NM_000238.4

p.S624T

c.1871G>C

3 papers

NM_000238.4

p.S624N

c.1871G>A

1 paper

NM_000238.4

p.V625delFs

c.1874delA