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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIAP1

TRIAP1

12q24.31 (UCSC)OMIM GTEx

7 papers

Pfam Domains

UPF0203aa 2–67UCSCUncharacterised protein family (UPF0203)

Gene Aliases

HGNC Name

TP53 regulated inhibitor of apoptosis 1

HGNC Alias Symbols

P53CSV; WF-1; HSPC132; p53CSV; MDM35

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr12:120446365 C>T

NM_016399.3

p.S3N

c.8G>A

exact variant not in gnomAD15 overlapping SVs

chr12:120446286 C>T

NM_016399.3

p.K29K

c.87G>A

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=1, hom=0)15 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."