Varaico: Literature-Extracted Genetic Variants

Gene:KCNMB1
Variant:p.A27V

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.A27V
c.80C>T
Surrounding Variants
1 paper
NM_004137.4
p.I29F
c.85A>T
1 paper
NM_004137.4
p.G20D
c.59G>A
5 papers
NM_004137.4
p.R11W
c.31C>T
1 paper
NM_004137.4
p.K4E
c.10A>G
32 papers
NM_004137.4
p.E65K
c.193G>A
1 paper
NM_004137.4
p.V71L
c.211G>T
1 paper
NM_004137.4
p.V71L
c.211G>C
1 paper
NM_004137.4
p.Q73*
c.217C>T
1 paper
NM_004137.4
p.P75Fs
c.225delinsCAAAGFs
1 paper
NM_004137.4
p.H92Y
c.274C>T
1 paper
NM_004137.4
p.H92P
c.275A>C
2 papers
NM_004137.4
p.S104A
c.310T>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."