Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.T126_G128insFs

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
7 papers
NM_000232.5
p.T126_G128insFs
c.377_384dup8
Surrounding Variants
1 paper
NM_000232.5
p.G129R
c.385G>C
1 paper
NM_000232.5
p.G129R
c.385G>A
2 papers
NM_000232.5
p.G129fs
c.385_386fs
1 paper
NM_000232.5
p.G128_G129insG
c.382_386ins3
1 paper
NM_000232.5
p.R130W
c.388A>T
1 paper
NM_000232.5
p.V127A
c.380T>C
1 paper
NM_000232.5
p.R130S
c.390G>T
1 paper
NM_000232.5
p.R130S
c.390G>C
2 papers
NM_000232.5
p.R131Q
c.392G>A
1 paper
NM_000232.5
p.T126I
c.377C>T
2 papers
NM_000232.5
p.N132D
c.394A>G
1 paper
NM_000232.5
p.T126A
c.376A>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."