Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.A42G

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.A42G
c.125C>G
Surrounding Variants
1 paper
NM_022166.4
p.S40T
c.118T>A
1 paper
NM_022166.4
p.G47W
c.139G>T
1 paper
NM_022166.4
p.A50V
c.149C>T
1 paper
NM_022166.4
p.N34D
c.100A>G
1 paper
NM_022166.4
p.W33L
c.98G>T
1 paper
NM_022166.4
p.G52insFs
c.155_156insG
1 paper
NM_022166.4
p.G53S
c.157G>A
1 paper
NM_022166.4
p.T29M
c.86C>T
1 paper
NM_022166.4
p.Q28H
c.84G>C
1 paper
NM_022166.4
p.P59L
c.176C>T
1 paper
NM_022166.4
p.V24M
c.70G>A
1 paper
NM_022166.4
p.A21delFs
c.62delG
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