Varaico: Literature-Extracted Genetic Variants

KCNH3

85 papers

RefSeq Summary

The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gen...

Pfam Domains

PAS_9aa 31–135UCSCPAS domain

Ion_transaa 224–512UCSCIon transport protein

cNMP_bindingaa 601–681UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 3

HGNC Alias Symbols

Kv12.2; BEC1; elk2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012284.3

p.G151R

c.451G>C

Surrounding Variants

1 paper

NM_012284.3

p.G179R

c.535G>A

1 paper

NM_012284.3

p.G179R

c.535G>C

1 paper

NM_012284.3

p.K188N

c.564G>C

1 paper

NM_012284.3

p.K188N

c.564G>T

1 paper

NM_012284.3

p.K188_H189delins

c.564_565delinsTT

1 paper

NM_012284.3

p.H189Y

c.565C>T

1 paper

NM_012284.3

p.V195A

c.584T>C

1 paper

NM_012284.3

p.A208T

c.622G>A

1 paper

NM_012284.3

p.G259S

c.775G>A

1 paper

NM_012284.3

p.R139Q

c.416G>A

1 paper

NM_012284.3

p.R281C

c.841C>T

1 paper

NM_012284.3

p.A313A

c.939A>G