Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.Y123*

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.Y123*
c.369T>A
Surrounding Variants
1 paper
NM_000232.5
p.Y123*
c.369T>G
1 paper
NM_000232.5
p.K124E
c.370A>G
2 papers
NM_000232.5
p.Y123S
c.368A>C
1 paper
NM_000232.5
p.L122_Y123delFs
c.366_367delAA
1 paper
NM_000232.5
p.L122P
c.365T>C
1 paper
NM_000232.5
p.S125C
c.373A>T
1 paper
NM_000232.5
p.S125R
c.373A>C
1 paper
NM_000232.5
p.S125I
c.374G>T
1 paper
NM_000232.5
p.S125N
c.374G>A
1 paper
NM_000232.5
p.L122F
c.364C>T
1 paper
NM_000232.5
p.S125R
c.375C>G
1 paper
NM_000232.5
p.S125R
c.375C>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."