Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.Q112L

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.Q112L
c.335A>T
Surrounding Variants
1 paper
NM_000232.5
p.Q112P
c.335A>C
3 papers
NM_000232.5
p.Q112*
c.334C>T
1 paper
NM_000232.5
p.Q112fs
c.334_335fs
1 paper
NM_000232.5
p.V113L
c.337G>C
2 papers
NM_000232.5
p.Q112_V113delFs
c.334_337del4
1 paper
NM_000232.5
p.S114P
c.340T>C
1 paper
NM_000232.5
p.Q112_V113del2
c.334_338del6
1 paper
NM_000232.5
p.F110C
c.329T>G
1 paper
NM_000232.5
p.F110S
c.329T>C
31 papers
NM_000232.5
p.S114F
c.341C>T
1 paper
NM_000232.5
p.S114Y
c.341C>A
1 paper
NM_000232.5
p.K111_S114delFs
c.331_341del11
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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."