Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.Y184*

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
4 papers
NM_000232.5
p.Y184*
c.552T>G
Surrounding Variants
3 papers
NM_000232.5
p.Y184*
c.552T>A
1 paper
NM_000232.5
p.Y184delFs
c.551delT
2 papers
NM_000232.5
p.S181_Y184delFs
c.541_551del11
1 paper
NM_000232.5
p.S181_Y184del4
c.541_551del12
8 papers
NM_000232.5
p.Y184C
c.551A>G
1 paper
NM_000232.5
p.Y184delFs
c.550delA
1 paper
NM_000232.5
p.T186A
c.556A>G
1 paper
NM_000232.5
p.D183G
c.548A>G
1 paper
NM_000232.5
p.T186P
c.556A>C
1 paper
NM_000232.5
p.H187Y
c.559C>T
1 paper
NM_000232.5
p.T182R
c.545C>G
1 paper
NM_000232.5
p.T182S
c.544A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."