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.H309delFs

c.925delG

Surrounding Variants

2 papers

NM_000238.4

p.H309Y

c.925C>T

1 paper

NM_000238.4

p.H309Q

c.927C>G

2 papers

NM_000238.4

p.H309N

c.925C>A

1 paper

NM_000238.4

p.H309Q

c.927C>A

4 papers

NM_000238.4

p.M308I

c.924G>A

1 paper

NM_000238.4

p.P310S

c.928C>T

2 papers

NM_000238.4

p.P310T

c.928C>A

2 papers

NM_000238.4

p.M308R

c.923T>G

2 papers

NM_000238.4

p.M308T

c.923T>C

1 paper

NM_000238.4

p.M308K

c.923T>A

3 papers

NM_000238.4

p.P310L

c.929C>T

1 paper

NM_000238.4

p.P310Q

c.929C>A