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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THAP8

Variant:p.V24M

THAP8

19q13.12 (UCSC)OMIM GTEx

15 papers

Pfam Domains

THAPaa 5–85UCSCTHAP domain

Gene Aliases

HGNC Name

THAP domain containing 8

HGNC Alias Symbol

FLJ32891

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr19:36054148 C>T

NM_152658.3

p.V24M

c.70G>A

Exome: n/aGenome: 0.0% (AC=1, hom=0)11 overlapping SVs

Surrounding Variants

chr19:36054146 C>T

NM_152658.3

p.V24V

c.72G>A

exact variant not in gnomAD11 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."