Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.F278V

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
2 papers
NM_152305.3
p.F278V
c.832T>G
Surrounding Variants
2 papers
NM_152305.3
p.F278insFs
c.833_834insC
10 papers
NM_152305.3
p.R279W
c.835C>T
2 papers
NM_152305.3
p.R279fs
c.835_836fs
5 papers
NM_152305.3
p.R279Q
c.836G>A
5 papers
NM_152305.3
p.R272*
c.814C>T
2 papers
NM_152305.3
p.C286Y
c.857G>A
1 paper
NM_152305.3
p.Y267C
c.800A>G
5 papers
NM_152305.3
p.K266Splc
c.798-2A>C
1 paper
NM_152305.3
p.W297delFs
c.889_890delTG
1 paper
NM_152305.3
p.W297fs
c.889_890fs
2 papers
NM_152305.3
p.W297*
c.890G>A
2 papers
NM_152305.3
p.W297*
c.891G>A
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