rs1130059
This variant is located in the PAK1 gene.
▶ClinVar annotation
PAK1-related disorder; Clear cell carcinoma of kidney; Colon adenocarcinoma; Colorectal cancer; Sarcoma; Uterine corpus endometrial carcinoma; Gastric cancer; Uterine carcinosarcoma; Thyroid cancer, nonmedullary, 1; Nonpapillary renal cell carcinoma; Lung cancer; Melanoma; Acute myeloid leukemia; Hepatocellular carcinoma; Malignant tumor of esophagus; Ovarian serous cystadenocarcinoma; Thymoma; Adrenocortical carcinoma, hereditary; Cervical cancer
View on ClinVar →About PAK1
This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]
View all PAK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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