Varaico: Literature-Extracted Genetic Variants

Gene:MGAT3
Variant:p.G246W

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.G246W
c.736G>T
Surrounding Variants
1 paper
NM_002409.5
p.A244V
c.731C>T
1 paper
NM_002409.5
p.P248S
c.742C>T
1 paper
NM_002409.5
p.L251L
c.753C>G
1 paper
NM_002409.5
p.R254W
c.760C>T
1 paper
NM_002409.5
p.A234V
c.701C>T
1 paper
NM_002409.5
p.G280D
c.839G>A
1 paper
NM_002409.5
p.Q283*
c.847C>T
1 paper
NM_002409.5
p.R206C
c.616C>T
2 papers
NM_002409.5
p.V200G
c.599T>G
2 papers
NM_002409.5
p.R198Q
c.593G>A
1 paper
NM_002409.5
p.D317N
c.949G>A
1 paper
NM_002409.5
p.E320A
c.959A>C
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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."