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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CUL5

Variant:p.N9S

CUL5

11q22.3 (UCSC)OMIM GTEx

91 papers

Pfam Domains

Cullinaa 19–507UCSCCullin alpha solenoid domain

Cullin_ABaa 530–672UCSCCullin alpha+beta domain

Cullin_Nedd8aa 710–772UCSCCullin protein neddylation domain

Gene Aliases

HGNC Name

cullin 5

HGNC Alias Symbol

VACM-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr11:108033803 A>G

NM_003478.6

p.N9S

c.26A>G

Exome: 0.0% (AC=3, hom=0)Genome: n/a29 overlapping SVs

Surrounding Variants

chr11:108033900 T>A

NM_003478.6

p.F41L

c.123T>A

exact variant not in gnomAD29 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."