Varaico: Literature-Extracted Genetic Variants

Gene:MGAT2
Variant:p.P189S

MGAT2

61 papers

RefSeq Summary

The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-termin...

Pfam Domains

MGAT2aa 92–440UCSCN-acetylglucosaminyltransferase II (MGAT2)

Gene Aliases

HGNC Name

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

HGNC Alias Symbol

GNT-II

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002408.4
p.P189S
c.565C>T
Surrounding Variants
1 paper
NM_002408.4
p.V175L
c.523G>C
1 paper
NM_002408.4
p.Q162*
c.484C>T
1 paper
NM_002408.4
p.I160S
c.479T>G
1 paper
NM_002408.4
p.E159D
c.477G>C
1 paper
NM_002408.4
p.E159D
c.477G>T
2 papers
NM_002408.4
p.K231delFs
c.693delA
10 papers
NM_002408.4
p.K237N
c.711G>C
10 papers
NM_002408.4
p.K237N
c.711G>T
1 paper
NM_002408.4
p.L134M
c.400C>A
1 paper
NM_002408.4
p.V245L
c.733G>C
1 paper
NM_002408.4
p.V245L
c.733G>T
1 paper
NM_002408.4
p.D250N
c.748G>A
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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."