Varaico: Literature-Extracted Genetic Variants

Gene:SGCD
Variant:p.M1_M2Splc

SGCD

191 papers

RefSeq Summary

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-acti...

Pfam Domains

Sarcoglycan_1aa 23–278UCSCSarcoglycan complex subunit protein

Gene Aliases

HGNC Name

sarcoglycan delta

HGNC Alias Symbols

DAGD; LGMD2F; CMD1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000337.6
p.M1_M2Splc
c.4-1G>A
Surrounding Variants
1 paper
NM_000337.6
p.M2insFs
c.4dupA
1 paper
NM_001128209.2
p.M1del1
c.1_3delATG
1 paper
NM_000337.6
p.P3A
c.7C>G
1 paper
NM_001128209.2
p.M1_Q3del3
c.1_8del9
1 paper
NM_000337.6
p.Q4insFs
c.10dupC
1 paper
NM_000337.6
p.Q4Fs
c.12delinsAAFs
3 papers
NM_000337.6
p.E5D
c.15G>C
3 papers
NM_000337.6
p.E5D
c.15G>T
2 papers
NM_000337.6
p.Y7_T8delFs
c.19_23del5
1 paper
NM_000337.6
p.H10insFs
c.28_29insA
1 paper
NM_000337.6
p.M1_M2Splc
c.4-41G>T
2 papers
NM_000337.6
p.G19_Y23del5
c.55_68del15
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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."