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.A260V

c.779C>T

Surrounding Variants

3 papers

NM_000238.4

p.A260P

c.778G>C

1 paper

NM_000238.4

p.A260T

c.778G>A

1 paper

NM_000238.4

p.S261L

c.782C>T

2 papers

NM_000238.4

p.S261fs

c.781_782fs

1 paper

NM_000238.4

p.S261S

c.783G>C

7 papers

NM_000238.4

p.D259N

c.775G>A

1 paper

NM_000238.4

p.S261delFs

c.782delG

1 paper

NM_000238.4

p.P258delFs

c.774delG

2 papers

NM_000238.4

p.D259fs

c.775_776fs

2 papers

NM_000238.4

p.G262S

c.784G>A

1 paper

NM_000238.4

p.S261delFs

c.782_783delCG

1 paper

NM_000238.4

p.G262fs

c.784_785fs