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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D3K

TBC1D3K

17q12 (UCSC)GTEx

5 papers

Pfam Domains

RabGAP-TBCaa 104–313UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 3K

HGNC Previous Name

TBC1 domain family, member 3K

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr17:37926020 G>A

NM_001291464.2

p.A7A

c.21G>A

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

chr17:37926048 G>C

NM_001291464.2

p.D17H

c.49G>C

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

chr17:37933498 C>A

NM_001291464.2

p.P358Q

c.1073C>A

Exome: 0.0% (AC=9, hom=2)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."