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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PES1

PES1

51 papers

RefSeq Summary

This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, ...

Pfam Domains

Pescadillo_Naa 1–141UCSCPescadillo N-terminus

Pescadillo_Naa 7–280UCSCPescadillo N-terminus

BRCT_2aa 186–275UCSCBRCT domain

Gene Aliases

HGNC Name

pescadillo ribosomal biogenesis factor 1

HGNC Alias Symbol

NOP7

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 45 variants

2 papers

chr22:30587386 G>A

NM_014303.4

p.R90W

c.268C>T

Pescadillo_N

Exome: 0.0% (AC=163, hom=0)Genome: 0.0% (AC=16, hom=0)2 overlapping SVs

2 papers

chr22:30581589 G>A

NM_014303.4

p.T229M

c.686C>T

Pescadillo_N

Exome: 0.1% (AC=1038, hom=7)Genome: 0.1% (AC=103, hom=1)2 overlapping SVs

2 papers

chr22:30579880 G>T

NM_014303.4

p.P409T

c.1225C>A

BRCT_2

exact variant not in gnomAD2 overlapping SVs

1 paper

chr22:30591832 A>T

NM_014303.4

p.M1K

c.2T>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr22:30589198 C>A

NM_014303.4

p.D33Y

c.97G>T

Pescadillo_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr22:30588114 G>A

NM_014303.4

p.N55N

c.165C>T

Pescadillo_N

Exome: 0.1% (AC=1176, hom=2)Genome: 0.1% (AC=92, hom=0)3 overlapping SVs

1 paper

chr22:30588111 C>A

NM_014303.4

p.K56N

c.168G>T

Pescadillo_N

exact variant not in gnomAD3 overlapping SVs

1 paper

chr22:30588111 C>G

NM_014303.4

p.K56N

c.168G>C

Pescadillo_N

exact variant not in gnomAD3 overlapping SVs

1 paper

chr22:30588101 C>G

NM_014303.4

p.A60P

c.178G>C

Pescadillo_N

exact variant not in gnomAD3 overlapping SVs

1 paper

chr22:30588101 C>T

NM_014303.4

p.A60T

c.178G>A

Pescadillo_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr22:30588094 C>T

NM_014303.4

p.R62Q

c.185G>A

Pescadillo_N

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

1 paper

chr22:30588031 C>T

NM_014303.4

p.R83H

c.248G>A

Pescadillo_N

Exome: 0.1% (AC=739, hom=2)Genome: 0.0% (AC=72, hom=0)2 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."