Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2
Variant:p.A186T

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.A186T
c.556G>A
Surrounding Variants
1 paper
NM_022167.4
p.A174fs
c.520_521fs
10 papers
NM_022167.4
p.A174fs
c.520_521fs
5 papers
NM_022167.4
p.A174delFs
c.520delG
1 paper
NM_022167.4
p.G166D
c.497G>A
1 paper
NM_022167.4
p.Q207_L208del1
c.621_623delGCT
1 paper
NM_022167.4
p.K161R
c.482A>G
1 paper
NM_022167.4
p.D155_N156insG
c.463_467ins3
1 paper
NM_022167.4
p.A136G
c.407C>G
1 paper
NM_022167.4
p.S124T
c.371G>C
3 papers
NM_022167.4
p.R120H
c.359G>A
1 paper
NM_022167.4
p.P115L
c.344C>T
1 paper
NM_022167.4
p.A112G
c.335C>G
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