Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.A225A

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.A225A
c.675C>A
Surrounding Variants
1 paper
NM_022166.4
p.A224_A225del0
c.670_675del6
1 paper
NM_022166.4
p.N226S
c.677A>G
1 paper
NM_022166.4
p.K231R
c.692A>G
1 paper
NM_022166.4
p.K231K
c.693G>A
1 paper
NM_022166.4
p.G214S
c.640G>A
1 paper
NM_022166.4
p.P237L
c.710C>T
1 paper
NM_022166.4
p.G210G
c.630G>C
1 paper
NM_022166.4
p.T242A
c.724A>G
2 papers
NM_022166.4
p.G244_S245insTG
c.730_734ins6
1 paper
NM_022166.4
p.P247S
c.739C>T
2 papers
NM_022166.4
p.E248K
c.742G>A
4 papers
NM_022166.4
p.Q199*
c.595C>T
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