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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPEM3

SPEM3

17p13.1 (UCSC)GTEx

5 papers

Gene Aliases

HGNC Name

SPEM family member 3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr17:7428940 C>G

NM_001364708.1

p.S13C

c.38C>G

exact variant not in gnomAD6 overlapping SVs

chr17:7429662 C>T

NM_001364708.1

p.A164V

c.491C>T

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

chr17:7431389 C>A

NM_001364708.1

p.P740T

c.2218C>A

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=38, hom=0)6 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."