Varaico: Literature-Extracted Genetic Variants

Gene:KCNMB1
Variant:p.S109R

KCNMB1

75 papers

RefSeq Summary

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be forme...

Pfam Domains

CaKBaa 7–190UCSCCalcium-activated potassium channel, beta subunit

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily M regulatory beta subunit 1

HGNC Alias Symbol

hslo-beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004137.4
p.S109R
c.325A>C
Surrounding Variants
1 paper
NM_004137.4
p.G108fs
c.322_323fs
1 paper
NM_004137.4
p.G108delFs
c.323delC
1 paper
NM_004137.4
p.S109R
c.327C>G
1 paper
NM_004137.4
p.S109R
c.327C>A
10 papers
NM_004137.4
p.V110L
c.328G>T
10 papers
NM_004137.4
p.V110L
c.328G>C
1 paper
NM_004137.4
p.G108S
c.322G>A
1 paper
NM_004137.4
p.Y113N
c.337T>A
1 paper
NM_004137.4
p.S104Y
c.311C>A
2 papers
NM_004137.4
p.S104A
c.310T>G
4 papers
NM_004137.4
p.A118T
c.352G>A
2 papers
NM_004137.4
p.A138V
c.413C>T
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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."