Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.G280S

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
1 paper
NM_000232.5
p.G280S
c.838G>A
Surrounding Variants
1 paper
NM_000232.5
p.D281H
c.841G>C
2 papers
NM_000232.5
p.D281N
c.841G>A
1 paper
NM_000232.5
p.G278D
c.833G>A
1 paper
NM_000232.5
p.W282C
c.846G>T
1 paper
NM_000232.5
p.W282C
c.846G>C
1 paper
NM_000232.5
p.Q276L
c.827A>T
9 papers
NM_000232.5
p.R284C
c.850C>T
1 paper
NM_000232.5
p.Q276*
c.826C>T
2 papers
NM_000232.5
p.Q276K
c.826C>A
1 paper
NM_000232.5
p.R284H
c.851G>A
1 paper
NM_000232.5
p.G274_D275delFs
c.820_823del4
1 paper
NM_000232.5
p.G274E
c.821G>A
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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."