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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D3L

TBC1D3L

17q12 (UCSC)GTEx

8 papers

Pfam Domains

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

Gene Aliases

HGNC Name

TBC1 domain family member 3L

HGNC Previous Name

TBC1 domain family, member 3L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr17:37978592 T>C

NM_001369500.1

p.S510G

c.1528A>G

Exome: 0.0% (AC=7, hom=1)Genome: 0.0% (AC=2, hom=1)10 overlapping SVs

chr17:37985395 TTG>N

NM_001369500.1

p.Q67fs

c.199_200fs

exact variant not in gnomAD10 overlapping SVs

chr17:37982453 A>T

NM_001369500.1

p.I193N

c.578T>A

exact variant not in gnomAD10 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."