Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.M345L

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.M345L
c.1033A>T
Surrounding Variants
1 paper
NM_022166.4
p.M345L
c.1033A>C
1 paper
NM_022166.4
p.R344H
c.1031G>A
1 paper
NM_022166.4
p.F346_K347del1
c.1038_1040delTTG
1 paper
NM_022166.4
p.G336S
c.1006G>A
1 paper
NM_022166.4
p.Y357C
c.1070A>G
1 paper
NM_022166.4
p.I358del1
c.1072_1073delGAT
2 papers
NM_022166.4
p.H359H
c.1077C>T
1 paper
NM_022166.4
p.D361N
c.1081G>A
1 paper
NM_022166.4
p.V326F
c.976G>T
1 paper
NM_022166.4
p.P325P
c.975G>A
1 paper
NM_022166.4
p.P325S
c.973C>T
1 paper
NM_022166.4
p.V318E
c.953T>A
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