Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.E529_S530Splc

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
6 papers
NM_022166.4
p.E529_S530Splc
c.1588-3C>T
Surrounding Variants
1 paper
NM_022166.4
p.F531_F532insFs
c.1593_1594insGC
1 paper
NM_022166.4
p.T534M
c.1601C>T
1 paper
NM_022166.4
p.H541Q
c.1623C>G
1 paper
NM_022166.4
p.H541Q
c.1623C>A
1 paper
NM_022166.4
p.C542R
c.1624T>C
1 paper
NM_022166.4
p.C542F
c.1625G>T
7 papers
NM_022166.4
p.R551C
c.1651C>T
1 paper
NM_022166.4
p.R551H
c.1652G>A
1 paper
NM_022166.4
p.I552S
c.1655T>G
1 paper
NM_022166.4
p.R557H
c.1670G>A
1 paper
NM_022166.4
p.K558Q
c.1672A>C
1 paper
NM_022166.4
p.E529_S530Splc
c.1588-93A>G
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