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.R281insFs

c.842dupG

Surrounding Variants

2 papers

NM_000238.4

p.A282P

c.844G>C

1 paper

NM_000238.4

p.R281H

c.842G>A

1 paper

NM_000238.4

p.A282V

c.845C>T

1 paper

NM_000238.4

p.R281C

c.841C>T

1 paper

NM_000238.4

p.R280delFs

c.839delC

4 papers

NM_000238.4

p.S283A

c.847T>G

1 paper

NM_000238.4

p.R280P

c.839G>C

1 paper

NM_000238.4

p.R280H

c.839G>A

2 papers

NM_000238.4

p.R280C

c.838C>T

1 paper

NM_000238.4

p.S283L

c.848C>T

1 paper

NM_000238.4

p.S283*

c.848C>A

1 paper

NM_000238.4

p.V279G

c.836T>G