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

2 papers

NM_002250.3

p.V275A

c.824T>C

Surrounding Variants

1 paper

NM_002250.3

p.V275L

c.823G>C

1 paper

NM_002250.3

p.C276G

c.826T>G

1 paper

NM_002250.3

p.C276insFs

c.826dupT

1 paper

NM_002250.3

p.C276W

c.828C>G

1 paper

NM_002250.3

p.C276fs

c.826_827fs

1 paper

NM_002250.3

p.C277G

c.829T>G

1 paper

NM_002250.3

p.C277W

c.831C>G

1 paper

NM_002250.3

p.A279S

c.835G>T

3 papers

NM_002250.3

p.A279T

c.835G>A

3 papers

NM_002250.3

p.A279G

c.836C>G

1 paper

NM_002250.3

p.A279D

c.836C>A

1 paper

NM_002250.3

p.L280Q

c.839T>A