Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.P625L

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.P625L
c.1874C>T
Surrounding Variants
1 paper
NM_022166.4
p.P625P
c.1875G>A
1 paper
NM_022166.4
p.T624T
c.1872C>T
1 paper
NM_022166.4
p.G626delFs
c.1876_1877delCC
1 paper
NM_022166.4
p.R628C
c.1882C>T
3 papers
NM_022166.4
p.R628H
c.1883G>A
1 paper
NM_022166.4
p.Y617fs
c.1849_1850fs
1 paper
NM_022166.4
p.G610_Y614delFs
c.1829_1841del13
1 paper
NM_022166.4
p.D636N
c.1906G>A
1 paper
NM_022166.4
p.D613Y
c.1837G>T
1 paper
NM_022166.4
p.G640R
c.1918G>C
2 papers
NM_022166.4
p.G640S
c.1918G>A
1 paper
NM_022166.4
p.G610fs
c.1828_1829fs
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