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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPATS2

Variant:p.M1V

SPATS2

12q13.12 (UCSC)OMIM GTEx

29 papers

Pfam Domains

SPATS2-likeaa 81–385UCSCSpermatogenesis-associated serine-rich protein 2-like

Gene Aliases

HGNC Name

spermatogenesis associated serine rich 2

HGNC Alias Symbols

SPATA10; SCR59; FLJ13117

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:49461013 A>G

NM_023071.4

p.M1V

c.1A>G

Exome: 0.0% (AC=5, hom=0)Genome: n/a23 overlapping SVs

Surrounding Variants

chr12:49461019 A>T

NM_023071.4

p.R3W

c.7A>T

exact variant not in gnomAD23 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."