Varaico: Literature-Extracted Genetic Variants

Gene:SGCB
Variant:p.M1_A2del2

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.M1_A2del2
c.1_5del6
Surrounding Variants
1 paper
NM_000232.5
p.M1_A2delFs
c.2_5del4
19 papers
NM_000232.5
p.A3G
c.8C>G
1 paper
NM_000232.5
p.A3E
c.8C>A
1 paper
NM_000232.5
p.M1insFs
c.3dupG
1 paper
NM_000232.5
p.M1_A2del1
c.3_5delGCC
1 paper
NM_000232.5
p.A4T
c.10G>A
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
4 papers
NM_000232.5
p.M1delFs
c.1_2delAT
1 paper
NM_000232.5
p.A4insFs
c.10dupG
1 paper
NM_000232.5
p.M1insFs
c.2_3insA
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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."