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

60 papers

NM_000238.4

p.G604S

c.1810G>A

NM_001204798.2

p.G264S

c.790G>A

Surrounding Variants

7 papers

NM_000238.4

p.G604C

c.1810G>T

1 paper

NM_000238.4

p.G604V

c.1811G>T

6 papers

NM_000238.4

p.G604D

c.1811G>A

1 paper

NM_000238.4

p.G603G

c.1809C>T

1 paper

NM_000238.4

p.G603delFs

c.1807delC

3 papers

NM_000238.4

p.G603A

c.1808G>C

8 papers

NM_000238.4

p.G603D

c.1808G>A

2 papers

NM_000238.4

p.G603C

c.1807G>T

3 papers

NM_000238.4

p.G603S

c.1807G>A

6 papers

NM_000238.4

p.P605S

c.1813C>T

8 papers

NM_000238.4

p.P605L

c.1814C>T

1 paper

NM_000238.4

p.P605H

c.1814C>A