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

14 papers

NM_000238.4

p.R312C

c.934C>T

Surrounding Variants

2 papers

NM_000238.4

p.R312S

c.934C>A

1 paper

NM_000238.4

p.R312fs

c.934_935fs

2 papers

NM_000238.4

p.R312L

c.935G>T

2 papers

NM_000238.4

p.R312P

c.935G>C

3 papers

NM_000238.4

p.R312H

c.935G>A

1 paper

NM_000238.4

p.L311P

c.932T>C

1 paper

NM_000238.4

p.L311Q

c.932T>A

1 paper

NM_000238.4

p.S313R

c.937A>C

1 paper

NM_000238.4

p.P310_L311insFs

c.930_931insC

1 paper

NM_000238.4

p.P310delFs

c.929delG

3 papers

NM_000238.4

p.P310L

c.929C>T

1 paper

NM_000238.4

p.S313R

c.939C>G