Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.P89L

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.P89L
c.266C>T
Surrounding Variants
1 paper
NM_000231.3
p.P89S
c.265C>T
1 paper
NM_000231.3
p.L90M
c.268T>A
2 papers
NM_000231.3
p.L90S
c.269T>C
1 paper
NM_000231.3
p.F88delFs
c.262delT
1 paper
NM_000231.3
p.Y91H
c.271T>C
1 paper
NM_000231.3
p.Y91_R98delFs
c.273_292del20
1 paper
NM_000231.3
p.Y91C
c.272A>G
1 paper
NM_000231.3
p.Y91F
c.272A>T
1 paper
NM_000231.3
p.L87S
c.260T>C
1 paper
NM_000231.3
p.L87insFs
c.260_261insG
1 paper
NM_000231.3
p.A92T
c.274G>A
2 papers
NM_000231.3
p.A92D
c.275C>A
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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."