Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.T294M

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.T294M
c.881C>T
Surrounding Variants
1 paper
NM_000232.5
p.L295F
c.883C>T
1 paper
NM_000232.5
p.D292G
c.875A>G
1 paper
NM_000232.5
p.A291V
c.872C>T
3 papers
NM_000232.5
p.A291T
c.871G>A
1 paper
NM_000232.5
p.V298M
c.892G>A
1 paper
NM_000232.5
p.C290Y
c.869G>A
1 paper
NM_000232.5
p.M289I
c.867G>T
1 paper
NM_000232.5
p.M289I
c.867G>C
1 paper
NM_000232.5
p.M289I
c.867G>A
1 paper
NM_000232.5
p.V300L
c.898G>T
1 paper
NM_000232.5
p.V300L
c.898G>C
1 paper
NM_000232.5
p.C288F
c.863G>T
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."