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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP23

ATP23

27 papers

RefSeq Summary

The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), ...

Pfam Domains

Peptidase_M76aa 50–220UCSCPeptidase M76 family

Gene Aliases

HGNC Name

ATP23 metallopeptidase and ATP synthase assembly factor homolog

HGNC Previous Symbol

XRCC6BP1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 26 variants

5 papers

chr12:57941843 A>T

NM_033276.4

p.S48C

c.142A>T

Exome: 33.5% (AC=489615, hom=86748)Genome: 28.2% (AC=42975, hom=7250)28 overlapping SVs

2 papers

chr12:57956835 C>T

NM_033276.4

p.A229V

c.686C>T

Exome: 0.6% (AC=9271, hom=47)Genome: 0.5% (AC=778, hom=1)27 overlapping SVs

2 papers

chr12:57956848 C>T

NM_033276.4

p.H233H

c.699C>T

Exome: 40.8% (AC=596326, hom=129052)Genome: 45.0% (AC=68395, hom=16325)27 overlapping SVs

1 paper

chr12:57941757 A>T

NM_033276.4

p.Q19L

c.56A>T

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:57941885 A>G

NM_033276.4

p.T62A

c.184A>G

Peptidase_M76

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:57947017 T>C

NM_033276.4

p.F86L

c.256T>C

Peptidase_M76

exact variant not in gnomAD25 overlapping SVs

1 paper

chr12:57947019 T>A

NM_033276.4

p.F86L

c.258T>A

Peptidase_M76

exact variant not in gnomAD25 overlapping SVs

1 paper

chr12:57947019 T>G

NM_033276.4

p.F86L

c.258T>G

Peptidase_M76

exact variant not in gnomAD25 overlapping SVs

1 paper

chr12:57947023 T>A

NM_033276.4

p.C88S

c.262T>A

Peptidase_M76

exact variant not in gnomAD25 overlapping SVs

1 paper

chr12:57947024 G>C

NM_033276.4

p.C88S

c.263G>C

Peptidase_M76

exact variant not in gnomAD25 overlapping SVs

1 paper

chr12:57947026 G>A

NM_033276.4

p.E89K

c.265G>A

Peptidase_M76

Exome: 0.0% (AC=7, hom=1)Genome: 0.0% (AC=1, hom=0)25 overlapping SVs

1 paper

chr12:57947032 T>A

NM_033276.4

p.C91S

c.271T>A

Peptidase_M76

Exome: n/aGenome: 0.0% (AC=1, hom=0)25 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."