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.A277S

c.829G>T

Surrounding Variants

8 papers

NM_000238.4

p.A277V

c.830C>T

1 paper

NM_000238.4

p.C276C

c.828C>T

1 paper

NM_000238.4

p.A277G

c.830C>G

1 paper

NM_000238.4

p.C276W

c.828C>G

1 paper

NM_000238.4

p.C276fs

c.826_827fs

3 papers

NM_000238.4

p.A277D

c.830C>A

2 papers

NM_000238.4

p.C276delFs

c.826delA

2 papers

NM_000238.4

p.C276S

c.826T>A

2 papers

NM_000238.4

p.S278C

c.832A>T

2 papers

NM_000238.4

p.S275R

c.825C>G

2 papers

NM_000238.4

p.S275R

c.825C>A

4 papers

NM_000238.4

p.V279M

c.835G>A