Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.A473T

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.A473T
c.1417G>A
Surrounding Variants
12 papers
NM_022166.4
p.R481W
c.1441C>T
1 paper
NM_022166.4
p.R481R
c.1443G>A
1 paper
NM_022166.4
p.R482W
c.1444C>T
1 paper
NM_022166.4
p.L464V
c.1390C>G
1 paper
NM_022166.4
p.P484S
c.1450C>T
1 paper
NM_022166.4
p.G486C
c.1456G>T
2 papers
NM_022166.4
p.V489M
c.1465G>A
1 paper
NM_022166.4
p.D490G
c.1469A>G
1 paper
NM_022166.4
p.D490_G491delFs
c.1468_1471del4
1 paper
NM_022166.4
p.S493P
c.1477T>C
3 papers
NM_022166.4
p.F508_S509del1
c.1523_1525delAGA
1 paper
NM_022166.4
p.D512Y
c.1534G>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."