Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.L153H

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.L153H
c.458T>A
Surrounding Variants
1 paper
NM_000232.5
p.L153R
c.458T>G
1 paper
NM_000232.5
p.L153P
c.458T>C
1 paper
NM_000232.5
p.S154G
c.460A>G
1 paper
NM_000232.5
p.K152R
c.455A>G
1 paper
NM_000232.5
p.V155G
c.464T>G
17 papers
NM_000232.5
p.T151R
c.452C>G
1 paper
NM_000232.5
p.T151A
c.451A>G
1 paper
NM_000232.5
p.E156A
c.467A>C
1 paper
NM_000232.5
p.N157S
c.470A>G
1 paper
NM_000232.5
p.N158S
c.473A>G
1 paper
NM_000232.5
p.Q148R
c.443A>G
1 paper
NM_000232.5
p.Q148P
c.443A>C
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