Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.L235L

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
3 papers
NM_000231.3
p.L235L
c.705T>C
Surrounding Variants
1 paper
NM_000231.3
p.L235P
c.704T>C
1 paper
NM_000231.3
p.L235F
c.703C>T
2 papers
NM_000231.3
p.D238N
c.712G>A
1 paper
NM_000231.3
p.D238insFs
c.713dupA
1 paper
NM_000231.3
p.D238Y
c.712G>T
1 paper
NM_000231.3
p.E240K
c.718G>A
1 paper
NM_000231.3
p.T241I
c.722C>T
1 paper
NM_000231.3
p.V242L
c.724G>T
1 paper
NM_000231.3
p.V242A
c.725T>C
1 paper
NM_000231.3
p.V242delins
c.725_726delinsAA
1 paper
NM_000231.3
p.C243_L244insA
c.727_731ins3
1 paper
NM_000231.3
p.C243W
c.729C>G
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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."