Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1

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
1–12 of 105 variants
11 papers
NM_152305.3
p.W4*
c.11G>A
11 papers
NM_152305.3
p.W4*
c.12G>A
11 papers
NM_152305.3
p.D233E
c.699T>A
11 papers
NM_152305.3
p.D233E
c.699T>G
10 papers
NM_152305.3
p.R279W
c.835C>T
8 papers
NM_152305.3
p.R218*
c.652C>T
7 papers
NM_152305.3
p.R69*
c.205C>T
7 papers
NM_152305.3
p.R132*
c.394C>T
6 papers
NM_152305.3
p.R98W
c.292C>T
5 papers
NM_152305.3
p.K266Splc
c.798-2A>C
5 papers
NM_152305.3
p.R272*
c.814C>T
5 papers
NM_152305.3
p.R279Q
c.836G>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."