Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.V23I

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.V23I
c.67G>A
Surrounding Variants
1 paper
NM_000231.3
p.V23A
c.68T>C
1 paper
NM_000231.3
p.V23V
c.69C>T
1 paper
NM_000231.3
p.Y22D
c.64T>G
1 paper
NM_000231.3
p.Y24C
c.71A>G
1 paper
NM_000231.3
p.Y24delFs
c.72delC
1 paper
NM_000231.3
p.Q21P
c.62A>C
1 paper
NM_000231.3
p.K25E
c.73A>G
1 paper
NM_000231.3
p.Q21E
c.61C>G
1 paper
NM_000231.3
p.I26V
c.76A>G
1 paper
NM_000231.3
p.N20_Y22del3
c.58_65del9
1 paper
NM_000231.3
p.G27R
c.79G>C
2 papers
NM_000231.3
p.E19_V23del5
c.55_68del15
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."