Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.P385L

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
4 papers
NM_022166.4
p.P385L
c.1154C>T
Surrounding Variants
1 paper
NM_022166.4
p.S379T
c.1136G>C
1 paper
NM_022166.4
p.W392*
c.1175G>A
1 paper
NM_022166.4
p.W392*
c.1176G>A
2 papers
NM_022166.4
p.Q377E
c.1129C>G
1 paper
NM_022166.4
p.R369Q
c.1106G>A
1 paper
NM_022166.4
p.Y366_L367delFs
c.1097_1101del5
4 papers
NM_022166.4
p.R406W
c.1216C>T
1 paper
NM_022166.4
p.E410V
c.1229A>T
2 papers
NM_022166.4
p.A424V
c.1271C>T
3 papers
NM_022166.4
p.P428P
c.1284C>G
1 paper
NM_022166.4
p.D361N
c.1081G>A
2 papers
NM_022166.4
p.H359H
c.1077C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."