Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.F175L

SGCG

503 papers

RefSeq Summary

This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is compris...

Pfam Domains

Sarcoglycan_1aa 25–280UCSCSarcoglycan complex subunit protein

Gene Aliases

HGNC Name

sarcoglycan gamma

HGNC Previous Symbols

DMDA1; MAM; LGMD2C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000231.3
p.F175L
c.523T>C
Surrounding Variants
5 papers
NM_000231.3
p.F175fs
c.523_524fs
11 papers
NM_000231.3
p.F175fs
c.523_524fs
1 paper
NM_000231.3
p.F175S
c.524T>C
3 papers
NM_000231.3
p.F175L
c.525T>A
3 papers
NM_000231.3
p.F175L
c.525T>G
63 papers
NM_000231.3
p.F175delFs
c.525delT
1 paper
NM_000231.3
p.L174fs
c.520_521fs
1 paper
NM_000231.3
p.E176*
c.526G>T
1 paper
NM_000231.3
p.A173insFs
c.518_519insC
1 paper
NM_000231.3
p.H177P
c.530A>C
1 paper
NM_000231.3
p.G172E
c.515G>A
1 paper
NM_000231.3
p.E171Q
c.511G>C
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."