Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.P93fs

XYLT1

164 papers

RefSeq Summary

This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosyn...

Pfam Domains

Branchaa 328–583UCSCCore-2/I-Branching enzyme
Xylo_Caa 613–793UCSCXylosyltransferase C terminal

Gene Aliases

HGNC Name

xylosyltransferase 1

HGNC Alias Symbols

XT-I; PXYLT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_022166.4
p.P93fs
c.277_278fs
Surrounding Variants
3 papers
NM_022166.4
p.G92insFs
c.276dupG
1 paper
NM_022166.4
p.R96_G100delFs
c.287_300del14
1 paper
NM_022166.4
p.Q94_P102delFs
c.281_306del26
2 papers
NM_022166.4
p.G82insFs
c.244_245insTG
1 paper
NM_022166.4
p.G81E
c.242G>A
1 paper
NM_022166.4
p.G107*
c.319G>T
1 paper
NM_022166.4
p.G79R
c.235G>C
1 paper
NM_022166.4
p.G79R
c.235G>A
1 paper
NM_022166.4
p.Q109*
c.325C>T
1 paper
NM_022166.4
p.P110R
c.329C>G
1 paper
NM_022166.4
p.G114E
c.341G>A
19 papers
NM_022166.4
p.A115S
c.343G>T
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."