Varaico: Literature-Extracted Genetic Variants

Gene:MGAT1
Variant:p.L381del1

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.L381del1
c.1141_1142delCAG
Surrounding Variants
1 paper
NM_002406.4
p.T375T
c.1125C>T
1 paper
NM_002406.4
p.A353D
c.1058C>A
1 paper
NM_002406.4
p.E352E
c.1056G>A
1 paper
NM_002406.4
p.R413insFs
c.1238_1239insA
1 paper
NM_002406.4
p.T342A
c.1024A>G
1 paper
NM_002406.4
p.H430Q
c.1290C>A
9 papers
NM_002406.4
p.L435P
c.1304T>C
1 paper
NM_002406.4
p.E438D
c.1314G>T
1 paper
NM_002406.4
p.E438D
c.1314G>C
1 paper
NM_002406.4
p.C303Y
c.908G>A
1 paper
NM_002406.4
p.R301G
c.901C>G
1 paper
NM_002406.4
p.W283*
c.849G>A
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