Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.A437A

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.A437A
c.1311G>A
Surrounding Variants
3 papers
NM_022166.4
p.A437V
c.1310C>T
1 paper
NM_022166.4
p.V436A
c.1307T>C
1 paper
NM_022166.4
p.D433N
c.1297G>A
1 paper
NM_022166.4
p.R443L
c.1328G>T
1 paper
NM_022166.4
p.R443Q
c.1328G>A
1 paper
NM_022166.4
p.R430Splc
c.1290-1G>A
1 paper
NM_022166.4
p.R430Splc
c.1290-2A>G
5 papers
NM_022166.4
p.R430Splc
c.1290-2A>C
1 paper
NM_022166.4
p.H451Q
c.1353C>G
1 paper
NM_022166.4
p.H451Q
c.1353C>A
1 paper
NM_022166.4
p.R453L
c.1358G>T
2 papers
NM_022166.4
p.R453Q
c.1358G>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."