Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.R284C

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
9 papers
NM_000232.5
p.R284C
c.850C>T
Surrounding Variants
1 paper
NM_000232.5
p.R284H
c.851G>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.K286E
c.856A>G
1 paper
NM_000232.5
p.K286T
c.857A>C
1 paper
NM_000232.5
p.K286N
c.858G>T
1 paper
NM_000232.5
p.K286N
c.858G>C
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.L287R
c.860T>G
2 papers
NM_000232.5
p.L287delFs
c.859delG
1 paper
NM_000232.5
p.G280S
c.838G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."