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

2 papers

NM_000238.4

p.I593M

c.1779A>G

Surrounding Variants

39 papers

NM_000238.4

p.I593R

c.1778T>G

8 papers

NM_000238.4

p.I593T

c.1778T>C

6 papers

NM_000238.4

p.I593K

c.1778T>A

3 papers

NM_000238.4

p.G594C

c.1780G>T

2 papers

NM_000238.4

p.G594R

c.1780G>C

1 paper

NM_000238.4

p.G594S

c.1780G>A

1 paper

NM_000238.4

p.G594V

c.1781G>T

10 papers

NM_000238.4

p.G594D

c.1781G>A

1 paper

NM_000238.4

p.I593L

c.1777A>T

8 papers

NM_000238.4

p.I593V

c.1777A>G

1 paper

NM_000238.4

p.I593L

c.1777A>C

2 papers

NM_000238.4

p.Q592delFs

c.1775delT