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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CKS2

CKS2

9q22.2 (UCSC)OMIM GTEx

7 papers

RefSeq Summary

CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cel...

Pfam Domains

CKSaa 6–73UCSCCyclin-dependent kinase regulatory subunit

Gene Aliases

HGNC Name

CDC28 protein kinase regulatory subunit 2

HGNC Previous Name

CDC28 protein kinase 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr9:89311294 T>TG

NM_001827.3

p.A2insFs

c.4dupG

exact variant not in gnomAD20 overlapping SVs

chr9:89311323 A>G

NM_001827.3

p.K11E

c.31A>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a20 overlapping SVs

chr9:89315218 T>C

NM_001827.3

p.H36H

c.108T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a20 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."