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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIC1

Variant:p.H94N

RIC1

9p24.1 (UCSC)OMIM PanelApp GTEx

66 papers

Pfam Domains

Beta-prop_RIC1_2ndaa 427–823UCSCRIC1 second beta propeller domain

RIC1aa 829–1001UCSCRIC1 C-terminal alpha solenoid region

Gene Aliases

HGNC Name

RIC1 partner of RAB6A GEF complex

HGNC Previous Symbol

KIAA1432

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:5689986 C>A

NM_020829.4

p.H94N

c.280C>A

Exome: 0.0% (AC=639, hom=4)Genome: 0.1% (AC=85, hom=2)11 overlapping SVs

Surrounding Variants

chr9:5689999 C>T

NM_020829.4

p.T98I

c.293C>T

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=3, hom=0)11 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."