Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.W167R

POGLUT1

114 papers

RefSeq Summary

This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif ...

Pfam Domains

Glyco_transf_90aa 49–391UCSCGlycosyl transferase family 90

Gene Aliases

HGNC Name

protein O-glucosyltransferase 1

HGNC Previous Symbols

C3orf9; KTELC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152305.3
p.W167R
c.499T>A
Surrounding Variants
1 paper
NM_152305.3
p.W167R
c.499T>C
2 papers
NM_152305.3
p.G169E
c.506G>A
1 paper
NM_152305.3
p.W164S
c.491G>C
4 papers
NM_152305.3
p.G170E
c.509G>A
1 paper
NM_152305.3
p.A172P
c.514G>C
1 paper
NM_152305.3
p.P175S
c.523C>T
1 paper
NM_152305.3
p.D158H
c.472G>C
1 paper
NM_152305.3
p.Y156N
c.466T>A
1 paper
NM_152305.3
p.E155V
c.464A>T
1 paper
NM_152305.3
p.R183_V192del10
c.547_575del30
4 papers
NM_152305.3
p.R183W
c.547C>T
1 paper
NM_152305.3
p.W184*
c.551G>A
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."