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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAGP

SMAGP

12q13.13 (UCSC)OMIM GTEx

2 papers

Pfam Domains

SMAGPaa 23–63UCSCSmall cell adhesion glycoprotein

Gene Aliases

HGNC Name

small cell adhesion glycoprotein

HGNC Alias Symbols

MGC149453; MGC149454; hSMAGP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr12:51246769 T>C

NM_001031628.2

p.S33G

c.97A>G

Exome: 0.0% (AC=91, hom=0)Genome: 0.0% (AC=6, hom=0)25 overlapping SVs

chr12:51246000 T>C

NM_001031628.2

p.I79V

c.235A>G

Exome: 0.0% (AC=143, hom=0)Genome: 0.0% (AC=19, hom=0)25 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."