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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMIM48

SMIM48

17p13.2 (UCSC)GTEx

3 papers

Gene Aliases

HGNC Name

small integral membrane protein 48

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr17:5500950 C>T

NM_001162371.3

p.D3N

c.7G>A

Exome: 11.4% (AC=125278, hom=7751)Genome: 12.5% (AC=19059, hom=1291)7 overlapping SVs

chr17:5500742 C>T

NM_001162371.3

p.R72H

c.215G>A

Exome: 7.1% (AC=77257, hom=3212)Genome: 11.6% (AC=17618, hom=1403)7 overlapping SVs

chr17:5500740 G>C

NM_001162371.3

p.P73A

c.217C>G

exact variant not in gnomAD7 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."