Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.T8T

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.T8T
c.24A>G
Surrounding Variants
1 paper
NM_000231.3
p.T8K
c.23C>A
1 paper
NM_000231.3
p.A9_E11insFs
c.26_33dup8
1 paper
NM_000231.3
p.A9V
c.26C>T
1 paper
NM_000231.3
p.T10K
c.29C>A
1 paper
NM_000231.3
p.T10I
c.29C>T
1 paper
NM_000231.3
p.E11_R17delFs
c.32_50del19
1 paper
NM_000231.3
p.E11A
c.32A>C
1 paper
NM_000231.3
p.E11G
c.32A>G
1 paper
NM_000231.3
p.E11E
c.33A>G
1 paper
NM_000231.3
p.G12delFs
c.35delG
2 papers
NM_000231.3
p.T7_T8delFs
c.19_23del5
1 paper
NM_000231.3
p.Q5R
c.14A>G
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."