Varaico: Literature-Extracted Genetic Variants

Gene:MGAT3
Variant:p.D499H

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
2 papers
NM_002409.5
p.D499H
c.1495G>C
Surrounding Variants
1 paper
NM_002409.5
p.D492N
c.1474G>A
1 paper
NM_002409.5
p.K489_L498del0
c.1465_1494del30
1 paper
NM_002409.5
p.R514H
c.1541G>A
1 paper
NM_002409.5
p.Q469K
c.1405C>A
2 papers
NM_002409.5
p.T468M
c.1403C>T
1 paper
NM_002409.5
p.R460C
c.1378C>T
1 paper
NM_002409.5
p.D439N
c.1315G>A
1 paper
NM_002409.5
p.F414F
c.1242C>T
1 paper
NM_002409.5
p.S407S
c.1221G>A
1 paper
NM_002409.5
p.R380C
c.1138C>T
1 paper
NM_002409.5
p.D377D
c.1131C>T
1 paper
NM_002409.5
p.Y374C
c.1121A>G
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