Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2
Variant:p.R120H

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
3 papers
NM_022167.4
p.R120H
c.359G>A
Surrounding Variants
1 paper
NM_022167.4
p.S124T
c.371G>C
1 paper
NM_022167.4
p.P115L
c.344C>T
1 paper
NM_022167.4
p.A112G
c.335C>G
1 paper
NM_022167.4
p.P110R
c.329C>G
1 paper
NM_022167.4
p.A136G
c.407C>G
1 paper
NM_022167.4
p.R97W
c.289C>T
1 paper
NM_022167.4
p.A98delFs
c.292delG
1 paper
NM_022167.4
p.A93S
c.277G>T
1 paper
NM_022167.4
p.D155_N156insG
c.463_467ins3
1 paper
NM_022167.4
p.R82insFs
c.244_245insTG
1 paper
NM_022167.4
p.W81R
c.241T>C
1 paper
NM_022167.4
p.K161R
c.482A>G
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