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.H340R

c.1019A>G

Surrounding Variants

6 papers

NM_002250.3

p.H340N

c.1018C>A

1 paper

NM_002250.3

p.R338L

c.1013G>T

1 paper

NM_002250.3

p.A336V

c.1007C>T

2 papers

NM_002250.3

p.S334A

c.1000T>G

1 paper

NM_002250.3

p.R330C

c.988C>T

2 papers

NM_002250.3

p.H328R

c.983A>G

1 paper

NM_002250.3

p.A350Splc

c.1049+9C>T

1 paper

NM_002250.3

p.K327E

c.979A>G

1 paper

NM_002250.3

p.F325V

c.973T>G

7 papers

NM_002250.3

p.A322V

c.965C>T

1 paper

NM_002250.3

p.V318A

c.953T>C

1 paper

NM_002250.3

p.V318E

c.953T>A