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.A313A

c.939A>G

Surrounding Variants

2 papers

NM_012284.3

p.A314V

c.941C>T

1 paper

NM_012284.3

p.H321Y

c.961C>T

1 paper

NM_012284.3

p.R281C

c.841C>T

1 paper

NM_012284.3

p.L340_R341delFs

c.1020_1021delGC

1 paper

NM_012284.3

p.D350E

c.1050C>G

1 paper

NM_012284.3

p.R351delFs

c.1053delG

1 paper

NM_012284.3

p.Y352fs

c.1054_1055fs

1 paper

NM_012284.3

p.Y352*

c.1056C>A

1 paper

NM_012284.3

p.Y352*

c.1056C>G

1 paper

NM_012284.3

p.S356N

c.1067G>A

1 paper

NM_012284.3

p.A357T

c.1069G>A

2 papers

NM_012284.3

p.A371V

c.1112C>T