Varaico: Literature-Extracted Genetic Variants

Gene:KCNMB1
Variant:p.A138V

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
2 papers
NM_004137.4
p.A138V
c.413C>T
Surrounding Variants
2 papers
NM_004137.4
p.R140W
c.418C>T
2 papers
NM_004137.4
p.R140Q
c.419G>A
1 paper
NM_004137.4
p.R150G
c.448C>G
4 papers
NM_004137.4
p.A118T
c.352G>A
1 paper
NM_004137.4
p.L158L
c.474C>T
1 paper
NM_004137.4
p.W163G
c.487T>G
1 paper
NM_004137.4
p.W163*
c.488G>A
1 paper
NM_004137.4
p.Y113N
c.337T>A
1 paper
NM_004137.4
p.W163*
c.489G>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.S109R
c.327C>G
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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."