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.L51insFs

c.152_153insT

Surrounding Variants

1 paper

NM_000238.4

p.C52G

c.154T>G

1 paper

NM_000238.4

p.L51R

c.152T>G

3 papers

NM_000238.4

p.L51P

c.152T>C

1 paper

NM_000238.4

p.C52R

c.154T>C

2 papers

NM_000238.4

p.L51Q

c.152T>A

1 paper

NM_000238.4

p.C52S

c.154T>A

1 paper

NM_000238.4

p.C52F

c.155G>T

1 paper

NM_000238.4

p.C52S

c.155G>C

2 papers

NM_000238.4

p.C52Y

c.155G>A

1 paper

NM_000238.4

p.L51V

c.151C>G

1 paper

NM_000238.4

p.L51M

c.151C>A

19 papers

NM_000238.4

p.E50D

c.150G>T