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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDK2AP1

Variant:p.A107delFs

CDK2AP1

16 papers

RefSeq Summary

The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for ...

Pfam Domains

CDK2APaa 4–114UCSCCyclin-dependent kinase 2-associated protein

Gene Aliases

HGNC Name

cyclin dependent kinase 2 associated protein 1

HGNC Alias Symbols

DORC1; doc-1; DOC1; ST19; p12DOC-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:123261764 GC>G

NM_004642.4

p.A107delFs

c.319delC

CDK2AP

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=10, hom=0)14 overlapping SVs

Surrounding Variants

1 paper

chr12:123261771 A>G

NM_004642.4

p.C105R

c.313T>C

CDK2AP

exact variant not in gnomAD14 overlapping SVs

1 paper

chr12:123261788 C>T

NM_004642.4

p.R99K

c.296G>A

CDK2AP

exact variant not in gnomAD14 overlapping SVs

1 paper

chr12:123265286 C>T

NM_004642.4

p.A64T

c.190G>A

CDK2AP

Exome: 0.0% (AC=2, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr12:123265287 G>A

NM_004642.4

p.Y63Y

c.189C>T

CDK2AP

Exome: 0.3% (AC=4474, hom=208)Genome: 2.8% (AC=4245, hom=201)13 overlapping SVs

1 paper

chr12:123267199 G>A

NM_004642.4

p.L47L

c.139C>T

CDK2AP

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

2 papers

chr12:123267233 G>T

NM_004642.4

p.Y35*

c.105C>A

CDK2AP

exact variant not in gnomAD15 overlapping SVs

1 paper

chr12:123267235 A>T

NM_004642.4

p.Y35N

c.103T>A

CDK2AP

exact variant not in gnomAD15 overlapping SVs

2 papers

chr12:123267270 T>C

NM_004642.4

p.H23R

c.68A>G

CDK2AP

exact variant not in gnomAD15 overlapping SVs

1 paper

chr12:123271582 C>A

NM_004642.4

p.A13S

c.37G>T

CDK2AP

Exome: 0.0% (AC=0, hom=0)Genome: n/a16 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."