Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2

XYLT2

121 papers

RefSeq Summary

The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the...

Pfam Domains

Branchaa 234–489UCSCCore-2/I-Branching enzyme
Xylo_Caa 519–699UCSCXylosyltransferase C terminal

Gene Aliases

HGNC Name

xylosyltransferase 2

HGNC Alias Symbols

XT-II; PXYLT2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 129 variants
13 papers
NM_022167.4
p.T801R
c.2402C>G
10 papers
NM_022167.4
p.A174fs
c.520_521fs
9 papers
NM_022167.4
p.V232fs
c.694_695fs
8 papers
NM_022167.4
p.P231insFs
c.692dupC
7 papers
NM_022167.4
p.R305T
c.914G>C
7 papers
NM_022167.4
p.R563G
c.1687C>G
7 papers
NM_022167.4
p.L605P
c.1814T>C
7 papers
NM_022167.4
p.R730*
c.2188C>T
6 papers
NM_022167.4
p.D56N
c.166G>A
6 papers
NM_022167.4
p.M237R
c.710T>G
6 papers
NM_022167.4
p.E854fs
c.2560_2561fs
5 papers
NM_022167.4
p.A174delFs
c.520delG
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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."