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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PES1

Variant:p.T264S

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

Selected Variant

1 paper

chr22:30581366 T>A

NM_014303.4

p.T264S

c.790A>T

Pescadillo_N

Exome: 4.0% (AC=58185, hom=1352)Genome: 5.0% (AC=7609, hom=257)2 overlapping SVs

Surrounding Variants

1 paper

chr22:30581365 G>C

NM_014303.4

p.T264S

c.791C>G

Pescadillo_N

exact variant not in gnomAD2 overlapping SVs

1 paper

chr22:30581375 C>T

NM_014303.4

p.G261S

c.781G>A

Pescadillo_N

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)2 overlapping SVs

1 paper

chr22:30581377 G>A

NM_014303.4

p.A260V

c.779C>T

Pescadillo_N

Exome: 0.0% (AC=3, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr22:30581395 G>A

NM_014303.4

p.A254V

c.761C>T

Pescadillo_N

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)2 overlapping SVs

1 paper

chr22:30581555 C>A

NM_014303.4

p.Q240H

c.720G>T

Pescadillo_N

exact variant not in gnomAD2 overlapping SVs

1 paper

chr22:30581555 C>G

NM_014303.4

p.Q240H

c.720G>C

Pescadillo_N

exact variant not in gnomAD2 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

1 paper

chr22:30581599 A>T

NM_014303.4

p.F226I

c.676T>A

Pescadillo_N

Exome: 0.0% (AC=2, hom=0)Genome: 1.9% (AC=1437, hom=0)2 overlapping SVs

1 paper

chr22:30581070 C>T

NM_014303.4

p.R285H

c.854G>A

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=10, hom=0)2 overlapping SVs

1 paper

chr22:30581068 C>T

NM_014303.4

p.V286M

c.856G>A

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=6, hom=0)2 overlapping SVs

1 paper

chr22:30580691 G>A

NM_014303.4

p.A308V

c.923C>T

Exome: 0.0% (AC=100, hom=1)Genome: 0.0% (AC=13, hom=0)2 overlapping SVs

1 paper

chr22:30580677 G>A

NM_014303.4

p.R313C

c.937C>T

Exome: 0.0% (AC=125, hom=1)Genome: 0.0% (AC=29, 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."