Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.R79H

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.R79H
c.236G>A
Surrounding Variants
2 papers
NM_000231.3
p.R79C
c.235C>T
1 paper
NM_000231.3
p.E81_G82insFs
c.243_244insA
2 papers
NM_000231.3
p.G82R
c.244G>A
2 papers
NM_000231.3
p.G82R
c.244G>C
1 paper
NM_000231.3
p.G82A
c.245G>C
1 paper
NM_000231.3
p.E83*
c.247G>T
1 paper
NM_000231.3
p.K75R
c.224A>G
1 paper
NM_000231.3
p.S84T
c.250T>A
1 paper
NM_000231.3
p.T74R
c.221C>G
1 paper
NM_000231.3
p.T74I
c.221C>T
1 paper
NM_000231.3
p.T74P
c.220A>C
1 paper
NM_000231.3
p.T74A
c.220A>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."