Varaico: Literature-Extracted Genetic Variants

Gene:ATP23
Variant:p.F236L

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033276.4
p.F236L
c.706T>C
Surrounding Variants
1 paper
NM_033276.4
p.F236L
c.708T>A
1 paper
NM_033276.4
p.F236L
c.708T>G
1 paper
NM_033276.4
p.E237Q
c.709G>C
2 papers
NM_033276.4
p.H233H
c.699C>T
1 paper
NM_033276.4
p.Y242C
c.725A>G
2 papers
NM_033276.4
p.A229V
c.686C>T
1 paper
NM_033276.4
p.F209F
c.627T>C
1 paper
NM_033276.4
p.K203R
c.608A>G
1 paper
NM_033276.4
p.K203fs
c.607_608fs
1 paper
NM_033276.4
p.A148V
c.443C>T
1 paper
NM_033276.4
p.A148T
c.442G>A
1 paper
NM_033276.4
p.H146L
c.437A>T
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