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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMIM33

SMIM33

5q31.2 (UCSC)GTEx

3 papers

Gene Aliases

HGNC Name

small integral membrane protein 33

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr5:139472784 G>A

NM_001365197.1

p.G88S

c.262G>A

Exome: 65.3% (AC=162377, hom=55500)Genome: 53.5% (AC=81398, hom=26214)49 overlapping SVs

chr5:139472795 C>T

NM_001365197.1

p.L91L

c.273C>T

exact variant not in gnomAD49 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."