Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.E285K

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.E285K
c.853G>A
Surrounding Variants
1 paper
NM_000231.3
p.E285*
c.853G>T
1 paper
NM_000231.3
p.H286delFs
c.857_858delAC
5 papers
NM_000231.3
p.Q284*
c.850C>T
1 paper
NM_000231.3
p.H286fs
c.856_857fs
64 papers
NM_000231.3
p.C283Y
c.848G>A
5 papers
NM_000231.3
p.N287S
c.860A>G
1 paper
NM_000231.3
p.V279M
c.835G>A
1 paper
NM_000231.3
p.L291P
c.872T>C
1 paper
NM_000231.3
p.L291R
c.872T>G
1 paper
NM_000231.3
p.*292*
c.875G>A
1 paper
NM_000231.3
p.A277D
c.830C>A
1 paper
NM_000231.3
p.A277S
c.829G>T
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