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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSPY2

TSPY2

Yp11.2 (UCSC)GTEx

3 papers

Pfam Domains

NAPaa 70–276UCSCNucleosome assembly protein (NAP)

Gene Aliases

HGNC Name

testis specific protein Y-linked 2

HGNC Alias Symbol

TSPYQ1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chrY:6246291 C>A

NM_022573.4

p.T8N

c.23C>A

exact variant not in gnomAD13 overlapping SVs

chrY:6247581 G>C

NM_022573.4

p.R195P

c.584G>C

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=0, hom=0)13 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."