Varaico: Literature-Extracted Genetic Variants

Gene:MGAT1
Variant:p.A231P

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.A231P
c.691G>C
Surrounding Variants
1 paper
NM_002406.4
p.S234insFs
c.701dupC
5 papers
NM_002406.4
p.R223Q
c.668G>A
1 paper
NM_002406.4
p.F218F
c.654C>T
1 paper
NM_002406.4
p.N244S
c.731A>G
1 paper
NM_002406.4
p.A252T
c.754G>A
1 paper
NM_002406.4
p.R260L
c.779G>T
1 paper
NM_002406.4
p.D262G
c.785A>G
1 paper
NM_002406.4
p.V196F
c.586G>T
1 paper
NM_002406.4
p.Q195Q
c.585G>A
1 paper
NM_002406.4
p.A192V
c.575C>T
1 paper
NM_002406.4
p.R190H
c.569G>A
1 paper
NM_002406.4
p.A186A
c.558G>T
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