Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.T665M

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
2 papers
NM_022166.4
p.T665M
c.1994C>T
Surrounding Variants
1 paper
NM_022166.4
p.T665A
c.1993A>G
1 paper
NM_022166.4
p.E664K
c.1990G>A
2 papers
NM_022166.4
p.A663A
c.1989C>T
2 papers
NM_022166.4
p.R662Q
c.1985G>A
1 paper
NM_022166.4
p.T669T
c.2007G>A
1 paper
NM_022166.4
p.G659D
c.1976G>A
2 papers
NM_022166.4
p.R657C
c.1969C>T
1 paper
NM_022166.4
p.R676*
c.2026C>T
1 paper
NM_022166.4
p.S654S
c.1962C>T
1 paper
NM_022166.4
p.D670_C675del6
c.2008_2024del18
2 papers
NM_022166.4
p.R676Q
c.2027G>A
1 paper
NM_022166.4
p.H653delFs
c.1957_1958delTG
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