Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.R116H

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
6 papers
NM_000231.3
p.R116H
c.347G>A
Surrounding Variants
1 paper
NM_000231.3
p.R116C
c.346C>T
1 paper
NM_000231.3
p.N117D
c.349A>G
1 paper
NM_000231.3
p.A115A
c.345G>A
1 paper
NM_000231.3
p.A115T
c.343G>A
1 paper
NM_000231.3
p.S118*
c.353C>A
1 paper
NM_000231.3
p.S118*
c.353C>G
1 paper
NM_000231.3
p.S118L
c.353C>T
1 paper
NM_000231.3
p.N114delFs
c.341_342delAT
1 paper
NM_000231.3
p.E119Q
c.355G>C
1 paper
NM_000231.3
p.E119G
c.356A>G
2 papers
NM_000231.3
p.G120R
c.358G>A
1 paper
NM_000231.3
p.G120R
c.358G>C
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