Variant · Snv
PTEN R130Q
CI-VAR-00003651Explore in graph →CIViC 899
Curated evidence
Evidence by cancer (1 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 10866302
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease1unmapped disease | ||||||||
| PTEN R130Q | (functional) | Functional | D | Supports Loss Of Function | 2 | submitted | EID7693Missense mutations in PTEN were characterized for phosphatase activity and the ability to bind a phospholipid membrane. Phosphatase assays revealed that PTEN R130Q retains no phosphatase activity in v… (full text at CIViC) PMID 10866302 · Han et al., 2000 · Open in CIViC | civic |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available