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.C729S

c.2186G>C

Surrounding Variants

1 paper

NM_000238.4

p.C729Y

c.2186G>A

1 paper

NM_000238.4

p.C729G

c.2185T>G

1 paper

NM_000238.4

p.C729S

c.2185T>A

1 paper

NM_000238.4

p.I728delFs

c.2184delG

3 papers

NM_000238.4

p.I728F

c.2182A>T

1 paper

NM_000238.4

p.D727insFs

c.2181dupC

2 papers

NM_000238.4

p.E722ins6

c.2164_2165ins18

2 papers

NM_000238.4

p.H731R

c.2192A>G

1 paper

NM_000238.4

p.H731P

c.2192A>C

2 papers

NM_000238.4

p.L732V

c.2194C>G

4 papers

NM_000238.4

p.L732P

c.2195T>C

1 paper

NM_000238.4

p.N733H

c.2197A>C