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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RGPD8

Variant:p.P1760A

RGPD8

2q14.1 (UCSC)OMIM GTEx

48 papers

Pfam Domains

Ran_BP1aa 1048–1169UCSCRanBP1 domain

Ran_BP1aa 1345–1466UCSCRanBP1 domain

Rab_bindaa 1640–1705UCSCRab binding domain

GRIPaa 1706–1749UCSCGRIP domain

Gene Aliases

HGNC Name

RANBP2 like and GRIP domain containing 8

HGNC Previous Symbol

RANBP2L1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:112370198 G>C

NM_001164463.1

p.P1760A

c.5278C>G

Exome: 1.2% (AC=15325, hom=807)Genome: 11.1% (AC=9451, hom=60)150 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."