Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.Y273N

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.Y273N
c.817T>A
Surrounding Variants
1 paper
NM_000231.3
p.L274_S275delFs
c.820_823del4
1 paper
NM_000231.3
p.G270R
c.808G>A
1 paper
NM_000231.3
p.G270R
c.808G>C
1 paper
NM_000231.3
p.D269N
c.805G>A
1 paper
NM_000231.3
p.A277S
c.829G>T
1 paper
NM_000231.3
p.A277D
c.830C>A
1 paper
NM_000231.3
p.P268Q
c.803C>A
1 paper
NM_000231.3
p.P268R
c.803C>G
1 paper
NM_000231.3
p.P268L
c.803C>T
1 paper
NM_000231.3
p.V279M
c.835G>A
3 papers
NM_000231.3
p.C267fs
c.799_800fs
1 paper
NM_000231.3
p.I264M
c.792C>G
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