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.L210Q

c.629T>A

Surrounding Variants

2 papers

NM_000238.4

p.L210P

c.629T>C

1 paper

NM_000238.4

p.S207_L210delFs

c.619_628del10

1 paper

NM_000238.4

p.L210ins1

c.628_629insCTC

2 papers

NM_000238.4

p.A211P

c.631G>C

1 paper

NM_000238.4

p.A211T

c.631G>A

2 papers

NM_000238.4

p.S209L

c.626C>T

1 paper

NM_000238.4

p.A211V

c.632C>T

1 paper

NM_000238.4

p.A211G

c.632C>G

1 paper

NM_000238.4

p.S209A

c.625T>G

1 paper

NM_000238.4

p.S209P

c.625T>C

1 paper

NM_000238.4

p.L212P

c.635T>C

3 papers

NM_000238.4

p.E208K

c.622G>A