Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.K152N

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.K152N
c.456G>T
Surrounding Variants
1 paper
NM_152305.3
p.K152N
c.456G>C
1 paper
NM_152305.3
p.E142K
c.424G>A
1 paper
NM_152305.3
p.E142_P143delFs
c.424_427del4
1 paper
NM_152305.3
p.K152_T153Splc
c.456+39G>T
7 papers
NM_152305.3
p.R132*
c.394C>T
3 papers
NM_152305.3
p.I129T
c.386T>C
1 paper
NM_152305.3
p.F114S
c.341T>C
1 paper
NM_152305.3
p.K152_T153Splc
c.457-25G>A
1 paper
NM_152305.3
p.E155V
c.464A>T
1 paper
NM_152305.3
p.Y156N
c.466T>A
1 paper
NM_152305.3
p.D158H
c.472G>C
1 paper
NM_152305.3
p.W164S
c.491G>C
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