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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ORC2

Variant:p.I49insFs

ORC2

62 papers

RefSeq Summary

The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC ...

Pfam Domains

RecA-like_ORC2aa 286–448UCSCOrigin recognition complex subunit 2 RecA-like domain

WHD_ORC2aa 503–565UCSCORC2 WHD

Gene Aliases

HGNC Name

origin recognition complex subunit 2

HGNC Previous Symbol

ORC2L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:200957493 A>AT

NM_006190.5

p.I49insFs

c.145dupA

Exome: 0.0% (AC=2, hom=0)Genome: n/a131 overlapping SVs

Surrounding Variants

1 paper

chr2:200957440 C>G

NM_006190.5

p.D67H

c.199G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a131 overlapping SVs

1 paper

chr2:200958042 C>G

NM_006190.5

p.D28H

c.82G>C

exact variant not in gnomAD131 overlapping SVs

1 paper

chr2:200958049 G>A

NM_006190.5

p.H25H

c.75C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a131 overlapping SVs

1 paper

chr2:200949564 C>A

NM_006190.5

p.M106I

c.318G>T

exact variant not in gnomAD131 overlapping SVs

1 paper

chr2:200949564 C>G

NM_006190.5

p.M106I

c.318G>C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)131 overlapping SVs

1 paper

chr2:200949564 C>T

NM_006190.5

p.M106I

c.318G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a131 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."