Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2
Variant:p.D861H

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.D861H
c.2581G>C
Surrounding Variants
1 paper
NM_022167.4
p.R865W
c.2593A>T
6 papers
NM_022167.4
p.E854fs
c.2560_2561fs
4 papers
NM_022167.4
p.E854delFs
c.2561_2562delAG
3 papers
NM_022167.4
p.D850N
c.2548G>A
5 papers
NM_022167.4
p.D850H
c.2548G>C
1 paper
NM_022167.4
p.T842S
c.2525C>G
1 paper
NM_022167.4
p.T842S
c.2524A>T
1 paper
NM_022167.4
p.R840fs
c.2518_2519fs
3 papers
NM_022167.4
p.R840fs
c.2518_2519fs
2 papers
NM_022167.4
p.R840delFs
c.2518_2519delAG
1 paper
NM_022167.4
p.G829_S831del3
c.2485_2492del9
13 papers
NM_022167.4
p.T801R
c.2402C>G
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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."