Home > Gene Browser > ARAF

ARAF

Synonyms
A-RAF, ARAF1, PKS2, RAFA1
External resources
Summary
This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
9
Likely pathogenic
0
VUS
4,872
Likely benign
1,045
Benign
0

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on ARAF gene are displayed below. The following symptoms were found in patients with a variant in ARAF. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.6%
Abnormality of head or neck
44.4%
Abnormality of the musculoskeletal system
44.4%
Abnormality of the eye
33.3%
Growth abnormality
33.3%
Abnormality of metabolism homeostasis
22.2%
Abnormality of prenatal development or birth
22.2%
Abnormality of the cardiovascular system
22.2%
Abnormality of the ear
22.2%
Abnormality of the genitourinary system
22.2%
Abnormality of limbs
11.1%
Abnormality of the breast
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the integument
11.1%
Abnormality of the respiratory system
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.