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

3 papers

NM_002250.3

p.V222L

c.664G>T

Surrounding Variants

3 papers

NM_002250.3

p.V222L

c.664G>C

1 paper

NM_002250.3

p.E227fs

c.679_680fs

2 papers

NM_002250.3

p.P204R

c.611C>G

1 paper

NM_002250.3

p.T202R

c.605C>G

1 paper

NM_002250.3

p.N201D

c.601A>G

1 paper

NM_002250.3

p.K197M

c.590A>T

1 paper

NM_002250.3

p.K197R

c.590A>G

1 paper

NM_002250.3

p.V195E

c.584T>A

1 paper

NM_002250.3

p.R189G

c.565C>G

2 papers

NM_002250.3

p.S181C

c.541A>T

1 paper

NM_002250.3

p.Y179F

c.536A>T

1 paper

NM_002250.3

p.L168P

c.503T>C