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.A217D

c.650C>A

Surrounding Variants

1 paper

NM_000238.4

p.A217insFs

c.650_651insAT

2 papers

NM_000238.4

p.T216_A217delins

c.648_650delinsCAT

1 paper

NM_000238.4

p.T216_A217delFs

c.648_649delCT

1 paper

NM_000238.4

p.A217A

c.651C>T

1 paper

NM_000238.4

p.A217fs

c.649_650fs

6 papers

NM_000238.4

p.M218V

c.652A>G

3 papers

NM_000238.4

p.T216I

c.647C>T

1 paper

NM_000238.4

p.M218fs

c.652_653fs

1 paper

NM_000238.4

p.T216A

c.646A>G

2 papers

NM_000238.4

p.D219N

c.655G>A

3 papers

NM_000238.4

p.V215G

c.644T>G

1 paper

NM_000238.4

p.V215A

c.644T>C