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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PXYLP1

Variant:p.A15A

PXYLP1

3q23 (UCSC)OMIM GTEx

26 papers

Pfam Domains

His_Phos_2aa 87–424UCSCHistidine phosphatase superfamily (branch 2)

Gene Aliases

HGNC Name

2-phosphoxylose phosphatase 1

HGNC Previous Symbol

ACPL2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:141260220 G>A

NM_001037172.3

p.A15A

c.45G>A

Exome: 0.0% (AC=170, hom=0)Genome: 0.0% (AC=7, hom=0)72 overlapping SVs

Surrounding Variants

chr3:141260185 C>T

NM_001037172.3

p.R4C

c.10C>T

Exome: 0.0% (AC=21, hom=1)Genome: 0.0% (AC=2, hom=0)72 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."