Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.C314R

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.C314R
c.940T>C
Surrounding Variants
1 paper
NM_000232.5
p.G315R
c.943G>C
1 paper
NM_000232.5
p.G315R
c.943G>A
1 paper
NM_000232.5
p.N312K
c.936C>G
1 paper
NM_000232.5
p.N312K
c.936C>A
1 paper
NM_000232.5
p.N312S
c.935A>G
1 paper
NM_000232.5
p.N316S
c.947A>G
2 papers
NM_000232.5
p.D311N
c.931G>A
1 paper
NM_000232.5
p.S310L
c.929C>T
1 paper
NM_000232.5
p.H318Q
c.954T>G
1 paper
NM_000232.5
p.H318Q
c.954T>A
1 paper
NM_000232.5
p.*319*
c.956A>G
1 paper
NM_000232.5
p.Q308R
c.923A>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."