Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.K33T

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.K33T
c.98A>C
Surrounding Variants
1 paper
NM_152305.3
p.W32*
c.95G>A
3 papers
NM_152305.3
p.R41delFs
c.121delA
3 papers
NM_152305.3
p.R41fs
c.121_122fs
4 papers
NM_152305.3
p.E44*
c.130G>T
3 papers
NM_152305.3
p.Y46*
c.138C>A
3 papers
NM_152305.3
p.Y46*
c.138C>G
1 paper
NM_152305.3
p.S50S
c.150A>C
1 paper
NM_152305.3
p.Q52*
c.154C>T
4 papers
NM_152305.3
p.Y57C
c.170A>G
1 paper
NM_152305.3
p.P8Q
c.23C>A
3 papers
NM_152305.3
p.S7*
c.20C>A
11 papers
NM_152305.3
p.W4*
c.12G>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."