Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.Q11*

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
2 papers
NM_000232.5
p.Q11*
c.31C>T
Surrounding Variants
5 papers
NM_000232.5
p.Q11E
c.31C>G
2 papers
NM_000232.5
p.E10delFs
c.30delT
1 paper
NM_000232.5
p.Q11R
c.32A>G
1 paper
NM_000232.5
p.Q11H
c.33G>T
1 paper
NM_000232.5
p.Q11H
c.33G>C
1 paper
NM_000232.5
p.E10G
c.29A>G
1 paper
NM_000232.5
p.E10_Q11delFs
c.29_33del5
1 paper
NM_000232.5
p.E10fs
c.28_29fs
1 paper
NM_000232.5
p.Q11insFs
c.33dupG
1 paper
NM_000232.5
p.A8_Q11ins1
c.22_33dup12
1 paper
NM_000232.5
p.A9A
c.27A>G
2 papers
NM_000232.5
p.A9A
c.27A>C
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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."