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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAMD13

Variant:p.N18Splc

SAMD13

1p31.1 (UCSC)OMIM GTEx

5 papers

Pfam Domains

SAM_1aa 49–108UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

sterile alpha motif domain containing 13

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr1:84325634 C>T

NM_001134663.2

p.N18Splc

c.54-3C>T

Exome: 0.3% (AC=4631, hom=26)Genome: 0.3% (AC=507, hom=6)239 overlapping SVs

Surrounding Variants

chr1:84325644 G>A

NM_001134663.2

p.E21K

c.61G>A

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=9, hom=0)239 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."