Varaico: Literature-Extracted Genetic Variants

Gene:GXYLT2
Variant:p.W185*

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.W185*
c.555G>A
Surrounding Variants
1 paper
NM_001080393.2
p.W185*
c.554G>A
1 paper
NM_001080393.2
p.L199I
c.595C>A
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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."