Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.F171C

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.F171C
c.512T>G
Surrounding Variants
1 paper
NM_000232.5
p.F170C
c.509T>G
1 paper
NM_000232.5
p.P173fs
c.517_518fs
1 paper
NM_000232.5
p.P173L
c.518C>T
1 paper
NM_000232.5
p.Q169P
c.506A>C
1 paper
NM_000232.5
p.P173insFs
c.518_519insC
1 paper
NM_000232.5
p.Q169E
c.505C>G
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.M168T
c.503T>C
1 paper
NM_000232.5
p.R174M
c.521G>T
1 paper
NM_000232.5
p.M168V
c.502A>G
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