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.N220K

c.660C>A

Surrounding Variants

1 paper

NM_000238.4

p.N220K

c.660C>G

1 paper

NM_000238.4

p.H221R

c.662A>G

4 papers

NM_000238.4

p.H221Q

c.663C>G

4 papers

NM_000238.4

p.H221Q

c.663C>A

2 papers

NM_000238.4

p.V222M

c.664G>A

8 papers

NM_000238.4

p.D219V

c.656A>T

2 papers

NM_000238.4

p.V222A

c.665T>C

2 papers

NM_000238.4

p.D219N

c.655G>A

1 paper

NM_000238.4

p.M218fs

c.652_653fs

6 papers

NM_000238.4

p.M218V

c.652A>G

1 paper

NM_000238.4

p.A217A

c.651C>T

1 paper

NM_000238.4

p.A217fs

c.649_650fs