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.G263S

c.787G>A

Surrounding Variants

1 paper

NM_002250.3

p.G263D

c.788G>A

1 paper

NM_002250.3

p.P258S

c.772C>T

3 papers

NM_002250.3

p.V256M

c.766G>A

1 paper

NM_002250.3

p.T270P

c.808A>C

1 paper

NM_002250.3

p.G252S

c.754G>A

1 paper

NM_002250.3

p.T250S

c.749C>G

1 paper

NM_002250.3

p.T250S

c.748A>T

1 paper

NM_002250.3

p.L243L

c.727C>T

1 paper

NM_002250.3

p.D239N

c.715G>A

1 paper

NM_002250.3

p.R228Splc

c.684-83T>C

1 paper

NM_002250.3

p.E227fs

c.679_680fs

3 papers

NM_002250.3

p.V222L

c.664G>T