Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.V163I

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
1 paper
NM_022166.4
p.V163I
c.487G>A
Surrounding Variants
1 paper
NM_022166.4
p.V163A
c.488T>C
1 paper
NM_022166.4
p.F160L
c.478T>C
1 paper
NM_022166.4
p.K158I
c.473A>T
1 paper
NM_022166.4
p.P157P
c.471C>A
1 paper
NM_022166.4
p.S155_V156insG
c.463_467ins3
1 paper
NM_022166.4
p.R171R
c.513G>A
1 paper
NM_022166.4
p.N154S
c.461A>G
1 paper
NM_022166.4
p.N151N
c.453C>T
1 paper
NM_022166.4
p.T148I
c.443C>T
1 paper
NM_022166.4
p.R147L
c.440G>T
6 papers
NM_022166.4
p.R147*
c.439C>T
1 paper
NM_022166.4
p.Q178_A182del0
c.534_545del12
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