Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2
Variant:p.G229insFs

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.G229insFs
c.686_687insCC
Surrounding Variants
8 papers
NM_022167.4
p.P231insFs
c.692dupC
1 paper
NM_022167.4
p.G229fs
c.685_686fs
1 paper
NM_022167.4
p.V232fs
c.694_695fs
9 papers
NM_022167.4
p.V232fs
c.694_695fs
6 papers
NM_022167.4
p.M237R
c.710T>G
1 paper
NM_022167.4
p.H241insFs
c.722_723insC
1 paper
NM_022167.4
p.A244_I245insTG
c.730_734ins6
1 paper
NM_022167.4
p.L248_K249del0
c.742_747del6
1 paper
NM_022167.4
p.Q207_L208del1
c.621_623delGCT
1 paper
NM_022167.4
p.K268_R269Splc
c.805-7C>G
2 papers
NM_022167.4
p.D271N
c.811G>A
1 paper
NM_022167.4
p.V277del1
c.829_831delGTG
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