Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2
Variant:p.M294I

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
Selected Variant
1 paper
NM_022167.4
p.M294I
c.882G>C
Surrounding Variants
1 paper
NM_022167.4
p.M294I
c.882G>A
1 paper
NM_022167.4
p.M294I
c.882G>T
1 paper
NM_022167.4
p.V295G
c.884T>G
1 paper
NM_022167.4
p.R293H
c.878G>A
1 paper
NM_022167.4
p.P291del1
c.871_873delCCC
1 paper
NM_022167.4
p.T290M
c.869C>T
1 paper
NM_022167.4
p.R288W
c.862C>T
7 papers
NM_022167.4
p.R305T
c.914G>C
1 paper
NM_022167.4
p.V277del1
c.829_831delGTG
2 papers
NM_022167.4
p.D271N
c.811G>A
1 paper
NM_022167.4
p.K268_R269Splc
c.805-7C>G
1 paper
NM_022167.4
p.L248_K249del0
c.742_747del6
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."