Varaico: Literature-Extracted Genetic Variants

Gene:SGCG
Variant:p.I45F

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.I45F
c.133A>T
Surrounding Variants
1 paper
NM_000231.3
p.I45V
c.133A>G
1 paper
NM_000231.3
p.L44L
c.132C>G
1 paper
NM_000231.3
p.L44delins
c.131_132delinsTT
1 paper
NM_000231.3
p.I45I
c.135C>A
1 paper
NM_000231.3
p.L44H
c.131T>A
1 paper
NM_000231.3
p.L44P
c.131T>C
1 paper
NM_000231.3
p.I46fs
c.136_137fs
1 paper
NM_000231.3
p.L43F
c.129A>C
1 paper
NM_000231.3
p.L43F
c.129A>T
1 paper
NM_000231.3
p.L44del1
c.130_131delCTC
1 paper
NM_000231.3
p.I46N
c.137T>A
1 paper
NM_000231.3
p.I46delFs
c.138delC
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