Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.G305Splc

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.G305Splc
c.913+30G>C
Surrounding Variants
1 paper
NM_022166.4
p.C301Y
c.902G>A
1 paper
NM_022166.4
p.H287_F300del14
c.859_899del42
2 papers
NM_022166.4
p.R299Q
c.896G>A
1 paper
NM_022166.4
p.E295K
c.883G>A
1 paper
NM_022166.4
p.L289fs
c.865_866fs
1 paper
NM_022166.4
p.R286H
c.857G>A
1 paper
NM_022166.4
p.Y284_C285delFs
c.852_855del4
1 paper
NM_022166.4
p.I280T
c.839T>C
1 paper
NM_022166.4
p.R277H
c.830G>A
1 paper
NM_022166.4
p.K272E
c.814A>G
1 paper
NM_022166.4
p.A271T
c.811G>A
1 paper
NM_022166.4
p.R270C
c.808C>T
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