Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2
Variant:p.G529fs

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
3 papers
NM_022167.4
p.G529fs
c.1585_1586fs
Surrounding Variants
2 papers
NM_022167.4
p.G529fs
c.1585_1586fs
1 paper
NM_022167.4
p.G529insFs
c.1586dupG
1 paper
NM_022167.4
p.T530fs
c.1588_1589fs
1 paper
NM_022167.4
p.T530T
c.1590G>A
2 papers
NM_022167.4
p.Y526insFs
c.1578dupC
3 papers
NM_022167.4
p.P528delFs
c.1584delC
1 paper
NM_022167.4
p.Y526insFs
c.1576_1577insC
4 papers
NM_022167.4
p.Y526fs
c.1576_1577fs
1 paper
NM_022167.4
p.Y526delFs
c.1577delA
1 paper
NM_022167.4
p.Y523*
c.1569T>A
1 paper
NM_022167.4
p.Y523Y
c.1569T>C
1 paper
NM_022167.4
p.Y523*
c.1569T>G
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