Varaico: Literature-Extracted Genetic Variants

Gene:SGCG

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
1–12 of 412 variants
64 papers
NM_000231.3
p.C283Y
c.848G>A
63 papers
NM_000231.3
p.F175delFs
c.525delT
19 papers
NM_000231.3
p.E263K
c.787G>A
11 papers
NM_000231.3
p.F175fs
c.523_524fs
7 papers
NM_000231.3
p.L194S
c.581T>C
6 papers
NM_000231.3
p.M1V
c.1A>G
6 papers
NM_000231.3
p.Y29_G30insFs
c.87_88insT
6 papers
NM_000231.3
p.G69R
c.205G>C
6 papers
NM_000231.3
p.R116H
c.347G>A
5 papers
NM_000231.3
p.F175fs
c.523_524fs
5 papers
NM_000231.3
p.Q284*
c.850C>T
5 papers
NM_000231.3
p.N287S
c.860A>G
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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."