Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.W31*

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.W31*
c.92G>A
Surrounding Variants
3 papers
NM_000231.3
p.W31*
c.93G>A
1 paper
NM_000231.3
p.R32K
c.95G>A
1 paper
NM_000231.3
p.K33E
c.97A>G
6 papers
NM_000231.3
p.Y29_G30insFs
c.87_88insT
1 paper
NM_000231.3
p.K33T
c.98A>C
1 paper
NM_000231.3
p.K33R
c.98A>G
1 paper
NM_000231.3
p.Y29_Y37delFs
c.87_111del25
2 papers
NM_000231.3
p.Y29insFs
c.86_87insA
1 paper
NM_000231.3
p.R34C
c.100C>T
4 papers
NM_000231.3
p.R34H
c.101G>A
1 paper
NM_000231.3
p.R34L
c.101G>T
1 paper
NM_000231.3
p.I28V
c.82A>G
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