Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.I90M

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.I90M
c.270T>G
Surrounding Variants
7 papers
NM_000232.5
p.R91C
c.271C>T
5 papers
NM_000232.5
p.R91L
c.272G>T
7 papers
NM_000232.5
p.R91P
c.272G>C
1 paper
NM_000232.5
p.I90F
c.268A>T
1 paper
NM_000232.5
p.I92L
c.274A>C
1 paper
NM_000232.5
p.I92S
c.275T>G
4 papers
NM_000232.5
p.I92T
c.275T>C
1 paper
NM_000232.5
p.I92N
c.275T>A
1 paper
NM_000232.5
p.V89L
c.265G>T
1 paper
NM_000232.5
p.V89L
c.265G>C
4 papers
NM_000232.5
p.V89M
c.265G>A
1 paper
NM_000232.5
p.A88V
c.263C>T
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