Varaico: Literature-Extracted Genetic Variants

KCNN4

142 papers

RefSeq Summary

The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpol...

Pfam Domains

SK_channelaa 11–126UCSCCalcium-activated SK potassium channel

Ion_trans_2aa 211–291UCSCIon channel

CaMBDaa 304–375UCSCCalmodulin binding domain

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily N member 4

HGNC Alias Symbols

KCa3.1; hSK4; hKCa4; hIKCa1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002250.3

p.Y161C

c.482A>G

Surrounding Variants

1 paper

NM_002250.3

p.P164S

c.490C>T

1 paper

NM_002250.3

p.L168P

c.503T>C

1 paper

NM_002250.3

p.G146C

c.436G>T

1 paper

NM_002250.3

p.G146R

c.436G>C

1 paper

NM_002250.3

p.G143E

c.428G>A

1 paper

NM_002250.3

p.Y179F

c.536A>T

2 papers

NM_002250.3

p.S181C

c.541A>T

1 paper

NM_002250.3

p.R189G

c.565C>G

1 paper

NM_002250.3

p.L131I

c.391T>A

1 paper

NM_002250.3

p.D130G

c.389A>G

1 paper

NM_002250.3

p.V195E

c.584T>A

1 paper

NM_002250.3

p.C127R

c.379T>C