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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ORC4

Variant:p.M1L

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

Selected Variant

1 paper

chr2:147975958 T>G

NM_181741.4

p.M1L

c.1A>C

exact variant not in gnomAD124 overlapping SVs

Surrounding Variants

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

1 paper

chr2:147975949 G>A

NM_181741.4

p.R4C

c.10C>T

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=1, hom=0)124 overlapping SVs

1 paper

chr2:147975949 GA>G

NM_181741.4

p.S3delFs

c.9delA

exact variant not in gnomAD124 overlapping SVs

1 paper

chr2:147975948 C>G

NM_181741.4

p.R4P

c.11G>C

exact variant not in gnomAD124 overlapping SVs

1 paper

chr2:147973457 A>G

NM_181741.4

p.V42A

c.125T>C

AAA_16

Exome: 0.0% (AC=1, hom=0)Genome: n/a124 overlapping SVs

1 paper

chr2:147973447 CTTGTA>C

NM_181741.4

p.Y44_K45delFs

c.130_134del5

AAA_16

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

1 paper

chr2:147972804 T>G

NM_181741.4

p.T54P

c.160A>C

AAA_16

exact variant not in gnomAD124 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

1 paper

chr2:147972759 G>A

NM_181741.4

p.R69*

c.205C>T

AAA_16

Exome: 0.0% (AC=5, hom=0)Genome: n/a124 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."