Varaico: Literature-Extracted Genetic Variants

Gene:MGAT3
Variant:p.V46_S47delFs

MGAT3

41 papers

RefSeq Summary

There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue...

Pfam Domains

Glyco_transf_17aa 186–358UCSCGlycosyltransferase family 17

Gene Aliases

HGNC Name

beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase

HGNC Alias Symbol

GNT-III

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002409.5
p.V46_S47delFs
c.138_139delGT
Surrounding Variants
1 paper
NM_002409.5
p.P43S
c.127C>T
1 paper
NM_002409.5
p.S48I
c.143G>T
1 paper
NM_002409.5
p.S48R
c.144C>G
1 paper
NM_002409.5
p.P85S
c.253C>T
1 paper
NM_002409.5
p.K88*
c.262A>T
1 paper
NM_002409.5
p.E92G
c.275A>G
1 paper
NM_002409.5
p.H94Y
c.280C>T
1 paper
NM_002409.5
p.A113T
c.337G>A
1 paper
NM_002409.5
p.E138_G139del2
c.412_416del6
1 paper
NM_002409.5
p.R166H
c.497G>A
2 papers
NM_002409.5
p.R198Q
c.593G>A
2 papers
NM_002409.5
p.V200G
c.599T>G
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