Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.W746G

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.W746G
c.2236T>G
Surrounding Variants
1 paper
NM_022166.4
p.D745E
c.2235C>G
1 paper
NM_022166.4
p.D745E
c.2235C>A
1 paper
NM_022166.4
p.D745G
c.2234A>G
1 paper
NM_022166.4
p.D747G
c.2240A>G
1 paper
NM_022166.4
p.D747E
c.2241T>G
1 paper
NM_022166.4
p.D747E
c.2241T>A
1 paper
NM_022166.4
p.G743S
c.2227G>A
1 paper
NM_022166.4
p.E750K
c.2248G>A
1 paper
NM_022166.4
p.V742I
c.2224G>A
4 papers
NM_022166.4
p.R754C
c.2260C>T
2 papers
NM_022166.4
p.R754H
c.2261G>A
1 paper
NM_022166.4
p.L759_L760insAAT
c.2275_2279ins9
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