Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.N140S

SGCB

344 papers

RefSeq Summary

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the musc...

Pfam Domains

Sarcoglycan_1aa 54–303UCSCSarcoglycan complex subunit protein

Gene Aliases

HGNC Name

sarcoglycan beta

HGNC Previous Symbol

LGMD2E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000232.5
p.N140S
c.419A>G
Surrounding Variants
1 paper
NM_000232.5
p.I137_G139del0
c.409_417del9
1 paper
NM_000232.5
p.N141D
c.421A>G
1 paper
NM_000232.5
p.G139V
c.416G>T
1 paper
NM_000232.5
p.G139D
c.416G>A
1 paper
NM_000232.5
p.N141S
c.422A>G
1 paper
NM_000232.5
p.Q142*
c.424C>T
1 paper
NM_000232.5
p.T138I
c.413C>T
1 paper
NM_000232.5
p.Q142P
c.425A>C
1 paper
NM_000232.5
p.I137S
c.410T>G
1 paper
NM_000232.5
p.I137N
c.410T>A
1 paper
NM_000232.5
p.R130_P143insFs
c.390_429dup40
1 paper
NM_000232.5
p.L135W
c.404T>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."