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.M88K

c.263T>A

Surrounding Variants

2 papers

NM_002250.3

p.M88R

c.263T>G

1 paper

NM_002250.3

p.T89T

c.267C>A

1 paper

NM_002250.3

p.L93V

c.277C>G

1 paper

NM_002250.3

p.L93M

c.277C>A

1 paper

NM_002250.3

p.L93R

c.278T>G

1 paper

NM_002250.3

p.L93P

c.278T>C

1 paper

NM_002250.3

p.Q85_L86Splc

c.256-8A>C

1 paper

NM_002250.3

p.Q85_L86Splc

c.256-10C>T

1 paper

NM_002250.3

p.R97C

c.289C>T

1 paper

NM_002250.3

p.R97S

c.289C>A

1 paper

NM_002250.3

p.V98M

c.292G>A

1 paper

NM_002250.3

p.V113L

c.337G>T