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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RABGAP1

Variant:p.F25Y

RABGAP1

9q33.2-q33.3 (UCSC)OMIM PanelApp GTEx

59 papers

Pfam Domains

PIDaa 151–274UCSCPhosphotyrosine interaction domain (PTB/PID)

DUF3694aa 306–437UCSCKinesin protein

RabGAP-TBCaa 569–772UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

RAB GTPase activating protein 1

HGNC Alias Symbols

GAPCenA; TBC1D11

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:122957133 T>A

NM_012197.4

p.F25Y

c.74T>A

exact variant not in gnomAD15 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."