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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC25A48

Variant:p.D27G

SLC25A48

5q31.1 (UCSC)OMIM GTEx

15 papers

Pfam Domains

Mito_carraa 3–91UCSCMitochondrial carrier protein

Mito_carraa 45–156UCSCMitochondrial carrier protein

Mito_carraa 159–252UCSCMitochondrial carrier protein

Gene Aliases

HGNC Name

solute carrier family 25 member 48

HGNC Alias Symbol

FLJ44862

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:135842449 A>G

NM_001349336.2

p.D27G

c.80A>G

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)60 overlapping SVs

Surrounding Variants

chr5:135842436 G>A

NM_001349336.2

p.G23S

c.67G>A

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=3, hom=0)60 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."