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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D5

Variant:p.Y375C

TBC1D5

3p24.3 (UCSC)OMIM GTEx

65 papers

Pfam Domains

RabGAP-TBCaa 84–281UCSCRab-GTPase-TBC domain

RabGAP-TBCaa 287–381UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 5

HGNC Alias Symbol

KIAA0210

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:17308006 T>C

NM_001349074.2

p.Y375C

c.1124A>G

Exome: 2.0% (AC=29060, hom=335)Genome: 1.6% (AC=2372, hom=24)40 overlapping SVs

Surrounding Variants

chr3:17308124 G>A

NM_001349074.2

p.R336W

c.1006C>T

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=4, hom=0)40 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."