Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT2
Variant:p.R333W

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
1 paper
NM_032806.6
p.R333W
c.997C>T
Surrounding Variants
1 paper
NM_032806.6
p.S336I
c.1007G>T
1 paper
NM_032806.6
p.H345D
c.1033C>G
1 paper
NM_032806.6
p.A347fs
c.1039_1040fs
1 paper
NM_032806.6
p.A347delFs
c.1039delC
1 paper
NM_032806.6
p.R357H
c.1070G>A
1 paper
NM_032806.6
p.L364H
c.1091T>A
1 paper
NM_032806.6
p.Y367*
c.1101T>G
1 paper
NM_032806.6
p.Y367*
c.1101T>A
1 paper
NM_032806.6
p.D372N
c.1114G>A
1 paper
NM_032806.6
p.P376P
c.1128C>T
1 paper
NM_032806.6
p.P283S
c.847C>T
1 paper
NM_032806.6
p.T272R
c.815C>G
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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."