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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPATS2L

Variant:p.N9K

SPATS2L

2q33.1 (UCSC)OMIM GTEx

39 papers

Pfam Domains

SPATS2-likeaa 59–368UCSCSpermatogenesis-associated serine-rich protein 2-like

Gene Aliases

HGNC Name

spermatogenesis associated serine rich 2 like

HGNC Alias Symbols

DNAPTP6; SGNP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:200389271 T>A

NM_001100423.2

p.N9K

c.27T>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a131 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."