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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ORC4

ORC4

75 papers

RefSeq Summary

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

Pfam Domains

AAA_16aa 36–190UCSCAAA ATPase domain

ORC4_Caa 228–415UCSCOrigin recognition complex (ORC) subunit 4 C-terminus

Gene Aliases

HGNC Name

origin recognition complex subunit 4

HGNC Previous Symbol

ORC4L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 45 variants

14 papers

chr2:147952440 T>C

NM_181741.4

p.Y174C

c.521A>G

AAA_16

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=6, hom=0)125 overlapping SVs

6 papers

chr2:147958859 T>C

NM_181741.4

p.N78S

c.233A>G

AAA_16

Exome: 31.3% (AC=345400, hom=56061)Genome: 32.6% (AC=49390, hom=8278)124 overlapping SVs

4 papers

chr2:147939224 C>CTGTT

NM_181741.4

p.A292insFs

c.874_875ins4

ORC4_C

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=1, hom=0)124 overlapping SVs

3 papers

chr2:147958332 A>G

NM_181741.4

p.L118S

c.353T>C

AAA_16

Exome: 0.3% (AC=3727, hom=9)Genome: 0.1% (AC=218, hom=0)124 overlapping SVs

2 papers

chr2:147972798 G>C

NM_181741.4

p.L56V

c.166C>G

AAA_16

Exome: 4.7% (AC=68011, hom=1808)Genome: 3.4% (AC=5184, hom=121)124 overlapping SVs

2 papers

chr2:147948190 G>C

NM_181741.4

p.S208*

c.623C>G

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)124 overlapping SVs

2 papers

chr2:147948190 G>T

NM_181741.4

p.S208*

c.623C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a124 overlapping SVs

2 papers

chr2:147939241 G>A

NM_181741.4

p.A286V

c.857C>T

ORC4_C

Exome: 0.5% (AC=6568, hom=23)Genome: 0.3% (AC=459, hom=0)124 overlapping SVs

2 papers

chr2:147939222 T>TN

NM_181741.4

p.A292fs

c.874_875fs

ORC4_C

exact variant not in gnomAD124 overlapping SVs

2 papers

chr2:147939142 T>C

NM_181741.4

p.H319R

c.956A>G

ORC4_C

Exome: 0.0% (AC=2, hom=0)Genome: n/a124 overlapping SVs

2 papers

chr2:147935629 C>T

NM_181741.4

p.E398K

c.1192G>A

ORC4_C

exact variant not in gnomAD124 overlapping SVs

1 paper

chr2:147975958 T>C

NM_181741.4

p.M1V

c.1A>G

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)124 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."