Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT2
Variant:p.F96delFs

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.F96delFs
c.286delA
Surrounding Variants
1 paper
NM_032806.6
p.F93F
c.279C>T
1 paper
NM_032806.6
p.P105S
c.313C>T
1 paper
NM_032806.6
p.D76N
c.226G>A
1 paper
NM_032806.6
p.V122M
c.364G>A
1 paper
NM_032806.6
p.T70M
c.209C>T
1 paper
NM_032806.6
p.G64S
c.190G>A
1 paper
NM_032806.6
p.Q58L
c.173A>T
1 paper
NM_032806.6
p.L135R
c.404T>G
1 paper
NM_032806.6
p.P146T
c.436C>A
1 paper
NM_032806.6
p.P146L
c.437C>T
1 paper
NM_032806.6
p.P146Q
c.437C>A
1 paper
NM_032806.6
p.V149M
c.445G>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."