Varaico: Literature-Extracted Genetic Variants

Gene:MGAT2
Variant:p.K33N

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
2 papers
NM_002408.4
p.K33N
c.99G>C
Surrounding Variants
2 papers
NM_002408.4
p.K33N
c.99G>T
1 paper
NM_002408.4
p.Q31*
c.91C>T
1 paper
NM_002408.4
p.P39_E45del7
c.115_134del21
1 paper
NM_002408.4
p.P40S
c.118C>T
1 paper
NM_002408.4
p.A44D
c.131C>A
1 paper
NM_002408.4
p.A47G
c.140C>G
1 paper
NM_002408.4
p.G49delFs
c.146delG
1 paper
NM_002408.4
p.G49fs
c.145_146fs
1 paper
NM_002408.4
p.L13_L15delFs
c.39_45del7
1 paper
NM_002408.4
p.L13fs
c.37_38fs
1 paper
NM_002408.4
p.D56insFs
c.167_168insC
1 paper
NM_002408.4
p.M1K
c.2T>A
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