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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMIM23

SMIM23

5q35.1 (UCSC)GTEx

3 papers

Pfam Domains

DUF4635aa 1–139UCSCDomain of unknown function (DUF4635)

Gene Aliases

HGNC Name

small integral membrane protein 23

HGNC Previous Symbol

C5orf50

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr5:171790279 G>A

NM_001289970.2

p.W52*

c.155G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

chr5:171790280 G>A

NM_001289970.2

p.W52*

c.156G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

chr5:171790797 G>A

NM_001289970.2

p.G76G

c.228G>A

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)10 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."