Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2
Variant:p.L754delFs

XYLT2

121 papers

RefSeq Summary

The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the...

Pfam Domains

Branchaa 234–489UCSCCore-2/I-Branching enzyme
Xylo_Caa 519–699UCSCXylosyltransferase C terminal

Gene Aliases

HGNC Name

xylosyltransferase 2

HGNC Alias Symbols

XT-II; PXYLT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022167.4
p.L754delFs
c.2260delC
Surrounding Variants
1 paper
NM_022167.4
p.R752H
c.2255G>A
1 paper
NM_022167.4
p.R742_P747del6
c.2224_2240del18
1 paper
NM_022167.4
p.E740K
c.2218G>A
1 paper
NM_022167.4
p.W735L
c.2204G>T
1 paper
NM_022167.4
p.Q733*
c.2197C>T
7 papers
NM_022167.4
p.R730*
c.2188C>T
1 paper
NM_022167.4
p.L722_R723insC
c.2164_2168ins3
1 paper
NM_022167.4
p.W690*
c.2070G>A
1 paper
NM_022167.4
p.W690*
c.2069G>A
1 paper
NM_022167.4
p.A686_T687insCC
c.2056_2060ins6
1 paper
NM_022167.4
p.R677H
c.2030G>A
1 paper
NM_022167.4
p.V675L
c.2023G>T
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