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

3 papers

NM_000238.4

p.S243R

c.729C>A

Surrounding Variants

3 papers

NM_000238.4

p.S243R

c.729C>G

1 paper

NM_000238.4

p.A244P

c.730G>C

4 papers

NM_000238.4

p.A244T

c.730G>A

1 paper

NM_000238.4

p.S243N

c.728G>A

1 paper

NM_000238.4

p.A244fs

c.730_731fs

3 papers

NM_000238.4

p.A244V

c.731C>T

2 papers

NM_000238.4

p.A244G

c.731C>G

2 papers

NM_000238.4

p.A244E

c.731C>A

1 paper

NM_000238.4

p.S243C

c.727A>T

2 papers

NM_000238.4

p.S243R

c.727A>C

1 paper

NM_000238.4

p.S243_A244ins8

c.727_731ins24

1 paper

NM_000238.4

p.V235_R242del8

c.703_725del24