Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.L191delFs

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.L191delFs
c.572delA
Surrounding Variants
1 paper
NM_000232.5
p.L191W
c.572T>G
1 paper
NM_000232.5
p.L191S
c.572T>C
1 paper
NM_000232.5
p.P192A
c.574C>G
1 paper
NM_000232.5
p.P192T
c.574C>A
1 paper
NM_000232.5
p.P192L
c.575C>T
1 paper
NM_000232.5
p.P192R
c.575C>G
2 papers
NM_000232.5
p.P192Q
c.575C>A
1 paper
NM_000232.5
p.F189C
c.566T>G
1 paper
NM_000232.5
p.F189S
c.566T>C
1 paper
NM_000232.5
p.G194R
c.580G>C
1 paper
NM_000232.5
p.G194R
c.580G>A
1 paper
NM_000232.5
p.F189V
c.565T>G
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."