Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT2
Variant:p.P455P

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.P455P
c.1365G>A
Surrounding Variants
1 paper
NM_032806.6
p.V452M
c.1354G>A
1 paper
NM_032806.6
p.R445Q
c.1334G>A
4 papers
NM_032806.6
p.R445*
c.1333C>T
2 papers
NM_032806.6
p.R472Q
c.1415G>A
1 paper
NM_032806.6
p.L435P
c.1304T>C
1 paper
NM_032806.6
p.G479S
c.1435G>A
1 paper
NM_032806.6
p.R486P
c.1457G>C
1 paper
NM_032806.6
p.A492V
c.1475C>T
1 paper
NM_032806.6
p.G413V
c.1238G>T
1 paper
NM_032806.6
p.G412R
c.1234G>C
1 paper
NM_032806.6
p.G412R
c.1234G>A
1 paper
NM_032806.6
p.Q411delFs
c.1232_1233delCT
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