Varaico: Literature-Extracted Genetic Variants

Gene:GXYLT2
Variant:p.D205N

GXYLT2

21 papers

RefSeq Summary

The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-g...

Pfam Domains

Glyco_transf_8aa 111–362UCSCGlycosyl transferase family 8

Gene Aliases

HGNC Name

glucoside xylosyltransferase 2

HGNC Previous Symbol

GLT8D4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080393.2
p.D205N
c.613G>A
Surrounding Variants
2 papers
NM_001080393.2
p.L228F
c.682C>T
1 paper
NM_001080393.2
p.Q236*
c.706C>T
1 paper
NM_001080393.2
p.Y252D
c.754T>G
1 paper
NM_001080393.2
p.F283I
c.847T>A
1 paper
NM_001080393.2
p.P300H
c.899C>A
1 paper
NM_001080393.2
p.D313Y
c.937G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."