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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TOMM20L

TOMM20L

14q23.1 (UCSC)GTEx

3 papers

Pfam Domains

MAS20aa 11–143UCSCMAS20 protein import receptor

Gene Aliases

HGNC Name

translocase of outer mitochondrial membrane 20 like

HGNC Alias Symbol

UNQ9438

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr14:58395961 C>T

NM_207377.3

p.P2S

c.4C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a17 overlapping SVs

chr14:58396013 C>G

NM_207377.3

p.A19G

c.56C>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)17 overlapping SVs

chr14:58407386 G>A

NM_207377.3

p.R108Q

c.323G>A

Exome: 0.0% (AC=210, hom=2)Genome: 0.1% (AC=205, hom=0)17 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."