ATRIP

Chr 3

ATR interacting protein

NCBI Gene: 84126ENSG00000164053UniProt: Q8WXE1

This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

0
Active trials
12
Pathogenic / LP
885
ClinVar variants
14
Pubs (1 yr)
1.1
Missense Z
0.64
LOEUF
Clinical Summary— ATRIP
🧬
Gene-Disease Validity (ClinGen)
hereditary breast carcinoma · ADLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic· 601 VUS of 885 total submissions
📖
GeneReview available — ATRIP
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.64LOEUF
pLI 0.000
Z-score 3.22
OE 0.41 (0.27–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.05Z-score
OE missense 0.86 (0.78–0.93)
361 obs / 422.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.27–0.64)
0≤0.351.4
Missense OE0.86 (0.78–0.93)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 14 / 34.3Missense obs/exp: 361 / 422.0Syn Z: 1.09

ClinVar Variant Classifications

885 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
Likely Pathogenic5
VUS601
Likely Benign268
Benign2
Conflicting2
7
Pathogenic
5
Likely Pathogenic
601
VUS
268
Likely Benign
2
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
5
0
2
0
7
Likely Pathogenic
5
0
0
0
5
VUS
25
545
27
4
601
Likely Benign
0
32
15
221
268
Benign
0
0
2
0
2
Conflicting
—2
Total3557746225885

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

ATRIP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

ATRIP-related breast cancer, susceptibility to

moderate
ADUndeterminedAbsent Gene Product
Cancer
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients