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RAF1

Synonyms
CMD1NN, CRAF, NS5, Raf-1, c-Raf
External resources
Summary
This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2.

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
2
VUS
1,768
Likely benign
1,183
Benign
2,866

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on RAF1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
45.5%
Abnormality of the nervous system
45.5%
Abnormality of the ear
27.3%
Abnormality of head or neck
18.2%
Abnormality of the cardiovascular system
18.2%
Abnormality of the eye
18.2%
Abnormality of the immune system
18.2%
Growth abnormality
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the digestive system
9.1%
Neoplasm
9.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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