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.A746fs

c.2236_2237fs

Surrounding Variants

1 paper

NM_000238.4

p.G745fs

c.2233_2234fs

1 paper

NM_000238.4

p.A746V

c.2237C>T

1 paper

NM_000238.4

p.A746delFs

c.2236delC

2 papers

NM_000238.4

p.T747S

c.2239A>T

2 papers

NM_000238.4

p.T747S

c.2240C>G

5 papers

NM_000238.4

p.R744fs

c.2230_2231fs

1 paper

NM_000238.4

p.R744delFs

c.2231delC

1 paper

NM_000238.4

p.F743_R744insFs

c.2229_2230insC

9 papers

NM_000238.4

p.R744P

c.2231G>C

1 paper

NM_000238.4

p.R744Q

c.2231G>A

2 papers

NM_000238.4

p.R744delFs

c.2230delG

22 papers

NM_000238.4

p.R744*

c.2230C>T