Varaico: Literature-Extracted Genetic Variants

Gene:KCNMB1

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
1–12 of 38 variants
32 papers
NM_004137.4
p.E65K
c.193G>A
10 papers
NM_004137.4
p.V110L
c.328G>T
10 papers
NM_004137.4
p.V110L
c.328G>C
5 papers
NM_004137.4
p.R11W
c.31C>T
4 papers
NM_004137.4
p.A118T
c.352G>A
2 papers
NM_004137.4
p.S104A
c.310T>G
2 papers
NM_004137.4
p.A138V
c.413C>T
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.K4E
c.10A>G
1 paper
NM_004137.4
p.G20D
c.59G>A
1 paper
NM_004137.4
p.A27V
c.80C>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."