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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GXYLT2

Variant:p.N119S

GXYLT2

3p13 (UCSC)OMIM GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:72908447 A>G

NM_001080393.2

p.N119S

c.356A>G

Exome: 0.3% (AC=4941, hom=14)Genome: 0.3% (AC=493, hom=0)68 overlapping SVs

Surrounding Variants

chr3:72908500 A>G

NM_001080393.2

p.R137G

c.409A>G

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)68 overlapping SVs

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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."