Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.L135V

SGCB

344 papers

RefSeq Summary

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the musc...

Pfam Domains

Sarcoglycan_1aa 54–303UCSCSarcoglycan complex subunit protein

Gene Aliases

HGNC Name

sarcoglycan beta

HGNC Previous Symbol

LGMD2E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000232.5
p.L135V
c.403T>G
Surrounding Variants
1 paper
NM_000232.5
p.L135W
c.404T>G
4 papers
NM_000232.5
p.L135S
c.404T>C
1 paper
NM_000232.5
p.E133G
c.398A>G
1 paper
NM_000232.5
p.I137S
c.410T>G
1 paper
NM_000232.5
p.I137N
c.410T>A
2 papers
NM_000232.5
p.N132D
c.394A>G
1 paper
NM_000232.5
p.T138I
c.413C>T
2 papers
NM_000232.5
p.R131Q
c.392G>A
1 paper
NM_000232.5
p.G139V
c.416G>T
1 paper
NM_000232.5
p.R130S
c.390G>T
1 paper
NM_000232.5
p.R130S
c.390G>C
1 paper
NM_000232.5
p.G139D
c.416G>A
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