Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.A186T

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.A186T
c.556G>A
Surrounding Variants
1 paper
NM_000231.3
p.R185_A186insFs
c.555_556insC
1 paper
NM_000231.3
p.D187N
c.559G>A
2 papers
NM_000231.3
p.V184G
c.551T>G
1 paper
NM_000231.3
p.V184delFs
c.552delC
1 paper
NM_000231.3
p.P188L
c.563C>T
2 papers
NM_000231.3
p.V184delFs
c.550delG
1 paper
NM_000231.3
p.L183P
c.548T>C
1 paper
NM_000231.3
p.P182R
c.545C>G
1 paper
NM_000231.3
p.P182L
c.545C>T
1 paper
NM_000231.3
p.E180G
c.539A>G
1 paper
NM_000231.3
p.E180V
c.539A>T
1 paper
NM_000231.3
p.L192F
c.574C>T
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