Varaico: Literature-Extracted Genetic Variants

Gene:GXYLT1
Variant:p.W100*

GXYLT1

99 papers

RefSeq Summary

GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (...

Pfam Domains

Glyco_transf_8aa 116–364UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glucoside xylosyltransferase 1

HGNC Previous Symbol

GLT8D3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_173601.2
p.W100*
c.299G>A
Surrounding Variants
2 papers
NM_173601.2
p.W100*
c.300G>A
5 papers
NM_173601.2
p.G95G
c.285A>T
1 paper
NM_173601.2
p.M88T
c.263T>C
8 papers
NM_173601.2
p.Y86F
c.257A>T
2 papers
NM_173601.2
p.C75delFs
c.223_224delCA
1 paper
NM_173601.2
p.R74Splc
c.222-1G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."