Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.C102F

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
4 papers
NM_152305.3
p.C102F
c.305G>T
Surrounding Variants
1 paper
NM_152305.3
p.S106L
c.317C>T
6 papers
NM_152305.3
p.R98W
c.292C>T
3 papers
NM_152305.3
p.R98fs
c.292_293fs
3 papers
NM_152305.3
p.R98delFs
c.292delC
4 papers
NM_152305.3
p.R107Splc
c.320+1G>C
1 paper
NM_152305.3
p.R107Splc
c.320+7G>A
1 paper
NM_152305.3
p.S73delFs
c.218delC
7 papers
NM_152305.3
p.R69*
c.205C>T
1 paper
NM_152305.3
p.F68V
c.202T>G
1 paper
NM_152305.3
p.I61_D64delFs
c.183_192del10
4 papers
NM_152305.3
p.Y57C
c.170A>G
1 paper
NM_152305.3
p.Q52*
c.154C>T
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