Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.L192L

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
1 paper
NM_022166.4
p.L192L
c.576T>G
Surrounding Variants
1 paper
NM_022166.4
p.L192I
c.574C>A
1 paper
NM_022166.4
p.E191G
c.572A>G
1 paper
NM_022166.4
p.L197P
c.590T>C
4 papers
NM_022166.4
p.Q199*
c.595C>T
1 paper
NM_022166.4
p.P186L
c.557C>T
1 paper
NM_022166.4
p.Q178_A182del0
c.534_545del12
1 paper
NM_022166.4
p.G210G
c.630G>C
1 paper
NM_022166.4
p.R171R
c.513G>A
1 paper
NM_022166.4
p.G214S
c.640G>A
1 paper
NM_022166.4
p.V163A
c.488T>C
1 paper
NM_022166.4
p.V163I
c.487G>A
1 paper
NM_022166.4
p.F160L
c.478T>C
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."