Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.G167S

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
8 papers
NM_000232.5
p.G167S
c.499G>A
Surrounding Variants
1 paper
NM_000232.5
p.G167C
c.499G>T
1 paper
NM_000232.5
p.G167R
c.499G>C
1 paper
NM_000232.5
p.G167V
c.500G>T
1 paper
NM_000232.5
p.G167D
c.500G>A
1 paper
NM_000232.5
p.I166S
c.497T>G
2 papers
NM_000232.5
p.I166V
c.496A>G
1 paper
NM_000232.5
p.M168V
c.502A>G
1 paper
NM_000232.5
p.M168T
c.503T>C
1 paper
NM_000232.5
p.M168I
c.504G>T
1 paper
NM_000232.5
p.M168I
c.504G>C
1 paper
NM_000232.5
p.M168I
c.504G>A
1 paper
NM_000232.5
p.Q169E
c.505C>G
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