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.S55W

c.164C>G

Surrounding Variants

11 papers

NM_000238.4

p.S55L

c.164C>T

1 paper

NM_000238.4

p.S55delFs

c.163delA

2 papers

NM_000238.4

p.S55P

c.163T>C

3 papers

NM_000238.4

p.R56W

c.166C>T

5 papers

NM_000238.4

p.R56L

c.167G>T

2 papers

NM_000238.4

p.R56P

c.167G>C

61 papers

NM_000238.4

p.R56Q

c.167G>A

1 paper

NM_000238.4

p.Y54F

c.161A>T

1 paper

NM_000238.4

p.Y54C

c.161A>G

1 paper

NM_000238.4

p.Y54S

c.161A>C

1 paper

NM_000238.4

p.Y54D

c.160T>G

8 papers

NM_000238.4

p.Y54H

c.160T>C