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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HACD3

Variant:p.E18D

HACD3

15q22.31 (UCSC)OMIM GTEx

25 papers

Pfam Domains

PTPLAaa 78–239UCSCProtein tyrosine phosphatase-like protein, PTPLA

Gene Aliases

HGNC Name

3-hydroxyacyl-CoA dehydratase 3

HGNC Previous Symbol

PTPLAD1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr15:65530685 G>T

NM_016395.4

p.E18D

c.54G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a17 overlapping SVs

Surrounding Variants

chr15:65530685 G>C

NM_016395.4

p.E18D

c.54G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 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."