Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.M1delFs

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.M1delFs
c.1_2delAT
Surrounding Variants
1 paper
NM_000232.5
p.M1I
c.3G>T
1 paper
NM_000232.5
p.M1I
c.3G>C
2 papers
NM_000232.5
p.M1I
c.3G>A
1 paper
NM_000232.5
p.M1insFs
c.2_3insA
2 papers
NM_000232.5
p.M1T
c.2T>C
2 papers
NM_000232.5
p.M1fs
c.1_2fs
1 paper
NM_000232.5
p.M1insFs
c.3dupG
3 papers
NM_000232.5
p.M1L
c.1A>T
3 papers
NM_000232.5
p.M1V
c.1A>G
2 papers
NM_000232.5
p.M1L
c.1A>C
1 paper
NM_000232.5
p.M1_A2delFs
c.2_5del4
1 paper
NM_000232.5
p.M1_A2del2
c.1_5del6
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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."