Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.R109*

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
6 papers
NM_000232.5
p.R109*
c.325C>T
Surrounding Variants
1 paper
NM_000232.5
p.R109L
c.326G>T
1 paper
NM_000232.5
p.R109P
c.326G>C
6 papers
NM_000232.5
p.L108R
c.323T>G
1 paper
NM_000232.5
p.L108P
c.323T>C
1 paper
NM_000232.5
p.R109insFs
c.325_326insCG
1 paper
NM_000232.5
p.L108F
c.322C>T
1 paper
NM_000232.5
p.F110C
c.329T>G
1 paper
NM_000232.5
p.F110S
c.329T>C
1 paper
NM_000232.5
p.L107V
c.319C>G
1 paper
NM_000232.5
p.G106V
c.317G>T
1 paper
NM_000232.5
p.G106C
c.316G>T
3 papers
NM_000232.5
p.Q112*
c.334C>T
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