Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.P818S

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.P818S
c.2452C>T
Surrounding Variants
1 paper
NM_022166.4
p.G819V
c.2456G>T
1 paper
NM_022166.4
p.P810S
c.2428C>T
1 paper
NM_022166.4
p.E804K
c.2410G>A
1 paper
NM_022166.4
p.I797_S801del5
c.2389_2402del15
1 paper
NM_022166.4
p.T802A
c.2404A>G
6 papers
NM_022166.4
p.S801C
c.2402C>G
1 paper
NM_022166.4
p.F837F
c.2511C>T
1 paper
NM_022166.4
p.I797I
c.2391C>T
2 papers
NM_022166.4
p.V839I
c.2515G>A
1 paper
NM_022166.4
p.D796N
c.2386G>A
1 paper
NM_022166.4
p.A840E
c.2519C>A
1 paper
NM_022166.4
p.A840A
c.2520G>A
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