Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.M1R

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
2 papers
NM_000231.3
p.M1R
c.2T>G
Surrounding Variants
2 papers
NM_000231.3
p.M1T
c.2T>C
1 paper
NM_000231.3
p.V2insFs
c.4dupG
1 paper
NM_000231.3
p.M1insFs
c.2_3insT
1 paper
NM_000231.3
p.M1L
c.1A>C
6 papers
NM_000231.3
p.M1V
c.1A>G
1 paper
NM_000231.3
p.M1L
c.1A>T
1 paper
NM_000231.3
p.M1I
c.3G>A
1 paper
NM_000231.3
p.M1I
c.3G>C
2 papers
NM_000231.3
p.M1I
c.3G>T
1 paper
NM_000231.3
p.V2_E4del0
c.5_10del6
1 paper
NM_000231.3
p.V2L
c.4G>C
1 paper
NM_000231.3
p.V2L
c.4G>T
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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."