Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.T160P

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.T160P
c.478A>C
Surrounding Variants
1 paper
NM_000232.5
p.K159R
c.476A>G
1 paper
NM_000232.5
p.S161P
c.481T>C
1 paper
NM_000232.5
p.K159E
c.475A>G
1 paper
NM_000232.5
p.N158K
c.474C>G
1 paper
NM_000232.5
p.N158K
c.474C>A
1 paper
NM_000232.5
p.N158S
c.473A>G
1 paper
NM_000232.5
p.I162L
c.484A>C
1 paper
NM_000232.5
p.I162S
c.485T>G
1 paper
NM_000232.5
p.I162T
c.485T>C
1 paper
NM_000232.5
p.N157S
c.470A>G
1 paper
NM_000232.5
p.T163A
c.487A>G
1 paper
NM_000232.5
p.T163P
c.487A>C
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