Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.P65T

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.P65T
c.193C>A
Surrounding Variants
1 paper
NM_000231.3
p.P65R
c.194C>G
1 paper
NM_000231.3
p.P65_A66Splc
c.195+1G>A
1 paper
NM_000231.3
p.P65_A66Splc
c.195+1G>C
1 paper
NM_000231.3
p.W62*
c.186G>A
1 paper
NM_000231.3
p.P65_A66Splc
c.195+5G>A
1 paper
NM_000231.3
p.W62*
c.185G>A
1 paper
NM_000231.3
p.W62R
c.184T>C
1 paper
NM_000231.3
p.K59insFs
c.177dupA
1 paper
NM_000231.3
p.L58F
c.172C>T
1 paper
NM_000231.3
p.W56*
c.167G>A
1 paper
NM_000231.3
p.W56L
c.167G>T
2 papers
NM_000231.3
p.T54K
c.161C>A
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