Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.I255N

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.I255N
c.764T>A
Surrounding Variants
1 paper
NM_000232.5
p.I255V
c.763A>G
1 paper
NM_000232.5
p.S254N
c.761G>A
2 papers
NM_000232.5
p.I256M
c.768C>G
1 paper
NM_000232.5
p.L257R
c.770T>G
1 paper
NM_000232.5
p.L257Q
c.770T>A
1 paper
NM_000232.5
p.N253S
c.758A>G
1 paper
NM_000232.5
p.G259*
c.775G>T
1 paper
NM_000232.5
p.G259E
c.776G>A
2 papers
NM_000232.5
p.M262T
c.785T>C
2 papers
NM_000232.5
p.V263I
c.787G>A
3 papers
NM_000232.5
p.T265I
c.794C>T
4 papers
NM_000232.5
p.R267C
c.799C>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."