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.C52S

c.155G>C

Surrounding Variants

1 paper

NM_000238.4

p.C52F

c.155G>T

2 papers

NM_000238.4

p.C52Y

c.155G>A

1 paper

NM_000238.4

p.C52G

c.154T>G

1 paper

NM_000238.4

p.C52R

c.154T>C

1 paper

NM_000238.4

p.C52S

c.154T>A

1 paper

NM_000238.4

p.C52C

c.156C>T

2 papers

NM_000238.4

p.C52W

c.156C>G

2 papers

NM_000238.4

p.G53C

c.157G>T

1 paper

NM_000238.4

p.L51insFs

c.152_153insT

23 papers

NM_000238.4

p.G53R

c.157G>C

17 papers

NM_000238.4

p.G53S

c.157G>A

1 paper

NM_000238.4

p.G53fs

c.157_158fs