Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.C97G

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.C97G
c.289T>G
Surrounding Variants
1 paper
NM_000232.5
p.C97R
c.289T>C
1 paper
NM_000232.5
p.C97F
c.290G>T
2 papers
NM_000232.5
p.C97Y
c.290G>A
1 paper
NM_000232.5
p.C97W
c.291T>G
2 papers
NM_000232.5
p.G96V
c.287G>T
1 paper
NM_000232.5
p.G96A
c.287G>C
1 paper
NM_000232.5
p.G96D
c.287G>A
1 paper
NM_000232.5
p.G96C
c.286G>T
3 papers
NM_000232.5
p.G96R
c.286G>C
1 paper
NM_000232.5
p.G96S
c.286G>A
1 paper
NM_000232.5
p.D98G
c.293A>G
2 papers
NM_000232.5
p.R91_D98delFs
c.273_292del20
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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."