Varaico: Literature-Extracted Genetic Variants

Gene:KCNN4
Variant:p.D130G

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.D130G
c.389A>G
Surrounding Variants
1 paper
NM_002250.3
p.L131I
c.391T>A
1 paper
NM_002250.3
p.C127R
c.379T>C
1 paper
NM_002250.3
p.P121S
c.361C>T
1 paper
NM_002250.3
p.G143E
c.428G>A
1 paper
NM_002250.3
p.G116V
c.347G>T
1 paper
NM_002250.3
p.G146C
c.436G>T
1 paper
NM_002250.3
p.G146R
c.436G>C
1 paper
NM_002250.3
p.V114L
c.340G>T
1 paper
NM_002250.3
p.V114L
c.340G>C
1 paper
NM_002250.3
p.V113L
c.337G>T
1 paper
NM_002250.3
p.V113L
c.337G>C
1 paper
NM_002250.3
p.Y161C
c.482A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."