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

5 papers

NM_000238.4

p.P63H

c.188C>A

Surrounding Variants

2 papers

NM_000238.4

p.P63L

c.188C>T

1 paper

NM_000238.4

p.S55_P63delFs

c.165_187del23

1 paper

NM_000238.4

p.P63P

c.189C>T

2 papers

NM_000238.4

p.C64G

c.190T>G

3 papers

NM_000238.4

p.C64R

c.190T>C

2 papers

NM_000238.4

p.C64F

c.191G>T

21 papers

NM_000238.4

p.C64Y

c.191G>A

6 papers

NM_000238.4

p.R62Q

c.185G>A

6 papers

NM_000238.4

p.C64W

c.192C>G

1 paper

NM_000238.4

p.Q61H

c.183G>T

1 paper

NM_000238.4

p.Q61H

c.183G>C

1 paper

NM_000238.4

p.Q61delins

c.182_183delinsCT