Varaico: Literature-Extracted Genetic Variants

Gene:MGAT2
Variant:p.C339*

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
3 papers
NM_002408.4
p.C339*
c.1017T>A
Surrounding Variants
1 paper
NM_002408.4
p.D336_T337delFs
c.1006_1009del4
1 paper
NM_002408.4
p.E333Q
c.997G>C
1 paper
NM_002408.4
p.D347N
c.1039G>A
1 paper
NM_002408.4
p.L323_T324insT
c.967_971ins3
1 paper
NM_002408.4
p.L358F
c.1072C>T
4 papers
NM_002408.4
p.N318D
c.952A>G
1 paper
NM_002408.4
p.A296V
c.887C>T
4 papers
NM_002408.4
p.S290F
c.869C>T
1 paper
NM_002408.4
p.E285Q
c.853G>C
1 paper
NM_002408.4
p.P284P
c.852T>A
1 paper
NM_002408.4
p.E396K
c.1186G>A
1 paper
NM_002408.4
p.M275T
c.824T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."