Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.D233E

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
11 papers
NM_152305.3
p.D233E
c.699T>A
Surrounding Variants
11 papers
NM_152305.3
p.D233E
c.699T>G
2 papers
NM_152305.3
p.A234V
c.701C>T
1 paper
NM_152305.3
p.P229T
c.685C>A
1 paper
NM_152305.3
p.R226W
c.676C>T
4 papers
NM_152305.3
p.R218Q
c.653G>A
8 papers
NM_152305.3
p.R218*
c.652C>T
4 papers
NM_152305.3
p.S212*
c.635C>A
4 papers
NM_152305.3
p.S212*
c.635C>G
4 papers
NM_152305.3
p.R210*
c.628C>T
1 paper
NM_152305.3
p.K202K
c.606G>A
2 papers
NM_152305.3
p.K201R
c.602A>G
1 paper
NM_152305.3
p.C263R
c.787T>C
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."