Varaico: Literature-Extracted Genetic Variants

Gene:ATP23
Variant:p.G97*

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.G97*
c.289G>T
Surrounding Variants
1 paper
NM_033276.4
p.S102L
c.305C>T
1 paper
NM_033276.4
p.C91S
c.272G>C
1 paper
NM_033276.4
p.C91S
c.271T>A
1 paper
NM_033276.4
p.E89K
c.265G>A
1 paper
NM_033276.4
p.C88S
c.263G>C
1 paper
NM_033276.4
p.C88S
c.262T>A
1 paper
NM_033276.4
p.F86L
c.258T>A
1 paper
NM_033276.4
p.F86L
c.258T>G
1 paper
NM_033276.4
p.F86L
c.256T>C
1 paper
NM_033276.4
p.H146L
c.437A>T
1 paper
NM_033276.4
p.A148T
c.442G>A
1 paper
NM_033276.4
p.A148V
c.443C>T
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