Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.L42H

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.L42H
c.125T>A
Surrounding Variants
1 paper
NM_000231.3
p.L42P
c.125T>C
1 paper
NM_000231.3
p.L42R
c.125T>G
1 paper
NM_000231.3
p.L43V
c.127T>G
1 paper
NM_000231.3
p.L43*
c.128T>A
1 paper
NM_000231.3
p.L41P
c.122T>C
1 paper
NM_000231.3
p.L43*
c.128T>G
1 paper
NM_000231.3
p.L43insFs
c.128_129insG
1 paper
NM_000231.3
p.L43F
c.129A>C
1 paper
NM_000231.3
p.L43F
c.129A>T
1 paper
NM_000231.3
p.L44del1
c.130_131delCTC
1 paper
NM_000231.3
p.L44H
c.131T>A
1 paper
NM_000231.3
p.L44P
c.131T>C
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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."