Varaico: Literature-Extracted Genetic Variants

Gene:SGCB

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
1–12 of 574 variants
31 papers
NM_000232.5
p.S114F
c.341C>T
19 papers
NM_000232.5
p.A3G
c.8C>G
17 papers
NM_000232.5
p.T151R
c.452C>G
10 papers
NM_000232.5
p.I119F
c.355A>T
9 papers
NM_000232.5
p.T182P
c.544A>C
9 papers
NM_000232.5
p.R284C
c.850C>T
8 papers
NM_000232.5
p.G167S
c.499G>A
8 papers
NM_000232.5
p.Y184C
c.551A>G
7 papers
NM_000232.5
p.R91C
c.271C>T
7 papers
NM_000232.5
p.R91P
c.272G>C
7 papers
NM_000232.5
p.T126_G128insFs
c.377_384dup8
6 papers
NM_000232.5
p.M100K
c.299T>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."