Varaico: Literature-Extracted Genetic Variants

Gene:MGAT1
Variant:p.D46A

MGAT1

125 papers

RefSeq Summary

There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-ace...

Pfam Domains

GNT-Iaa 12–444UCSCGNT-I family

Gene Aliases

HGNC Name

alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

HGNC Previous Symbol

GLYT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002406.4
p.D46A
c.137A>C
Surrounding Variants
1 paper
NM_002406.4
p.G45S
c.133G>A
1 paper
NM_002406.4
p.A48T
c.142G>A
1 paper
NM_002406.4
p.L43V
c.127C>G
1 paper
NM_002406.4
p.S39*
c.116C>A
1 paper
NM_002406.4
p.L57insFs
c.171dupG
1 paper
NM_002406.4
p.Q59H
c.177A>T
1 paper
NM_002406.4
p.Q59H
c.177A>C
1 paper
NM_002406.4
p.E64*
c.190G>T
1 paper
NM_002406.4
p.G70E
c.209G>A
1 paper
NM_002406.4
p.S80L
c.239C>T
1 paper
NM_002406.4
p.S81N
c.242G>A
1 paper
NM_002406.4
p.R83Q
c.248G>A
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