Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.H70insFs

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.H70insFs
c.209_210insG
Surrounding Variants
1 paper
NM_000231.3
p.H70R
c.209A>G
1 paper
NM_000231.3
p.H70N
c.208C>A
1 paper
NM_000231.3
p.H70Q
c.210C>A
2 papers
NM_000231.3
p.L71S
c.212T>C
1 paper
NM_000231.3
p.L71W
c.212T>G
1 paper
NM_000231.3
p.G69S
c.205G>A
6 papers
NM_000231.3
p.G69R
c.205G>C
2 papers
NM_000231.3
p.L71F
c.213G>C
2 papers
NM_000231.3
p.L71F
c.213G>T
1 paper
NM_000231.3
p.G69fs
c.205_206fs
1 paper
NM_000231.3
p.C72S
c.214T>A
1 paper
NM_000231.3
p.C72S
c.215G>C
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