Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT2
Variant:p.G412R

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.G412R
c.1234G>C
Surrounding Variants
1 paper
NM_032806.6
p.G412R
c.1234G>A
1 paper
NM_032806.6
p.Q411delFs
c.1232_1233delCT
1 paper
NM_032806.6
p.Q411Q
c.1233G>A
1 paper
NM_032806.6
p.Q411fs
c.1231_1232fs
1 paper
NM_032806.6
p.G413V
c.1238G>T
1 paper
NM_032806.6
p.R407W
c.1219C>T
1 paper
NM_032806.6
p.E399K
c.1195G>A
2 papers
NM_032806.6
p.R394Q
c.1181G>A
1 paper
NM_032806.6
p.L435P
c.1304T>C
4 papers
NM_032806.6
p.R445*
c.1333C>T
1 paper
NM_032806.6
p.R445Q
c.1334G>A
1 paper
NM_032806.6
p.P376P
c.1128C>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."