Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.A92D

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.A92D
c.275C>A
Surrounding Variants
1 paper
NM_000231.3
p.A92A
c.276C>A
1 paper
NM_000231.3
p.A92T
c.274G>A
1 paper
NM_000231.3
p.K93E
c.277A>G
1 paper
NM_000231.3
p.Y91C
c.272A>G
1 paper
NM_000231.3
p.K93R
c.278A>G
1 paper
NM_000231.3
p.Y91F
c.272A>T
1 paper
NM_000231.3
p.Y91H
c.271T>C
1 paper
NM_000231.3
p.Y91_R98delFs
c.273_292del20
2 papers
NM_000231.3
p.E94K
c.280G>A
1 paper
NM_000231.3
p.E94Q
c.280G>C
2 papers
NM_000231.3
p.L90S
c.269T>C
1 paper
NM_000231.3
p.L90M
c.268T>A
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