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.L417_V418ins4

c.1249_1253ins12

Surrounding Variants

1 paper

NM_000238.4

p.L417L

c.1251G>A

1 paper

NM_000238.4

p.V418A

c.1253T>C

3 papers

NM_000238.4

p.I414fs

c.1240_1241fs

1 paper

NM_000238.4

p.I414N

c.1241T>A

1 paper

NM_000238.4

p.Y420insFs

c.1258_1259insA

2 papers

NM_000238.4

p.I414V

c.1240A>G

9 papers

NM_000238.4

p.Y420C

c.1259A>G

1 paper

NM_000238.4

p.Y420S

c.1259A>C

3 papers

NM_000238.4

p.L413R

c.1238T>G

12 papers

NM_000238.4

p.L413P

c.1238T>C

1 paper

NM_000238.4

p.Y420fs

c.1258_1259fs

4 papers

NM_000238.4

p.L413F

c.1237C>T