Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.K562R

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.K562R
c.1685A>G
Surrounding Variants
1 paper
NM_022166.4
p.K558Q
c.1672A>C
1 paper
NM_022166.4
p.R557H
c.1670G>A
1 paper
NM_022166.4
p.V569M
c.1705G>A
1 paper
NM_022166.4
p.I552S
c.1655T>G
1 paper
NM_022166.4
p.C572C
c.1716C>T
1 paper
NM_022166.4
p.G573S
c.1717G>A
1 paper
NM_022166.4
p.R551H
c.1652G>A
7 papers
NM_022166.4
p.R551C
c.1651C>T
1 paper
NM_022166.4
p.D578insFs
c.1733dupA
1 paper
NM_022166.4
p.N577_D578insFs
c.1730_1733dup4
1 paper
NM_022166.4
p.C542F
c.1625G>T
1 paper
NM_022166.4
p.C542R
c.1624T>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."