Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.Q106R

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.Q106R
c.317A>G
Surrounding Variants
1 paper
NM_000231.3
p.S107*
c.320C>A
3 papers
NM_000231.3
p.S107L
c.320C>T
1 paper
NM_000231.3
p.L105_Q106insFs
c.315_316insA
1 paper
NM_000231.3
p.L104H
c.311T>A
1 paper
NM_000231.3
p.L104R
c.311T>G
1 paper
NM_000231.3
p.L103P
c.308T>C
1 paper
NM_000231.3
p.L103V
c.307C>G
1 paper
NM_000231.3
p.L103L
c.307C>T
1 paper
NM_000231.3
p.Q109Q
c.327G>A
1 paper
NM_000231.3
p.S101S
c.303A>T
1 paper
NM_000231.3
p.V111M
c.331G>A
1 paper
NM_000231.3
p.T112_V113delFs
c.334_337del4
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