rs149384256

This variant is located in the AKIRIN2 gene.

▶

ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

not provided; Malignant tumor of esophagus; Lung cancer; Cervical cancer; Familial cancer of breast; Clear cell carcinoma of kidney; Ovarian serous cystadenocarcinoma; Melanoma; Uveal melanoma; Familial pancreatic carcinoma; Sarcoma; Gastric cancer; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Uterine carcinosarcoma; Acute myeloid leukemia

View on ClinVar →

About AKIRIN2

Enables enzyme binding activity; identical protein binding activity; and protein-macromolecule adaptor activity. Involved in proteasome localization and protein import into nucleus. Acts upstream of with a positive effect on nuclear protein quality control by the ubiquitin-proteasome system. Located in nucleoplasm. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all AKIRIN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…