Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.L51S

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
1 paper
NM_000231.3
p.L51S
c.152T>C
Surrounding Variants
2 papers
NM_000231.3
p.N50S
c.149A>G
1 paper
NM_000231.3
p.L53F
c.157C>T
2 papers
NM_000231.3
p.L53P
c.158T>C
2 papers
NM_000231.3
p.T54K
c.161C>A
1 paper
NM_000231.3
p.L47L
c.141C>A
1 paper
NM_000231.3
p.L47F
c.139C>T
1 paper
NM_000231.3
p.I46M
c.138C>G
1 paper
NM_000231.3
p.W56*
c.167G>A
1 paper
NM_000231.3
p.W56L
c.167G>T
1 paper
NM_000231.3
p.I46N
c.137T>A
1 paper
NM_000231.3
p.I46delFs
c.138delC
1 paper
NM_000231.3
p.I46fs
c.136_137fs
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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."