Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT2
Variant:p.M165T

POMGNT2

94 papers

RefSeq Summary

This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012].

Pfam Domains

Glyco_transf_61aa 140–362UCSCGlycosyltransferase 61

Gene Aliases

HGNC Name

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

HGNC Previous Symbols

C3orf39; GTDC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032806.6
p.M165T
c.494T>C
Surrounding Variants
2 papers
NM_032806.6
p.V167I
c.499G>A
1 paper
NM_032806.6
p.F168S
c.503T>C
1 paper
NM_032806.6
p.D171N
c.511G>A
7 papers
NM_032806.6
p.R158H
c.473G>A
1 paper
NM_032806.6
p.A156V
c.467C>T
1 paper
NM_032806.6
p.I155T
c.464T>C
1 paper
NM_032806.6
p.A153A
c.459C>T
1 paper
NM_032806.6
p.L179L
c.537G>C
1 paper
NM_032806.6
p.R180W
c.538C>T
1 paper
NM_032806.6
p.V149M
c.445G>A
1 paper
NM_032806.6
p.P146L
c.437C>T
1 paper
NM_032806.6
p.P146Q
c.437C>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."