Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT2
Variant:p.R217W

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.R217W
c.649C>T
Surrounding Variants
1 paper
NM_032806.6
p.K212R
c.635A>G
1 paper
NM_032806.6
p.R225W
c.673C>T
1 paper
NM_032806.6
p.Y206insFs
c.617_618insA
1 paper
NM_032806.6
p.C228Y
c.683G>A
3 papers
NM_032806.6
p.W197*
c.591G>A
3 papers
NM_032806.6
p.W197*
c.590G>A
2 papers
NM_032806.6
p.K238_T240delFs
c.713_719del7
1 paper
NM_032806.6
p.L191delFs
c.572delA
1 paper
NM_032806.6
p.Y245C
c.734A>G
1 paper
NM_032806.6
p.H187Y
c.559C>T
1 paper
NM_032806.6
p.Q249*
c.745C>T
3 papers
NM_032806.6
p.P253L
c.758C>T
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."