RAF1
Raf-1 proto-oncogene, serine/threonine kinase
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. [provided by RefSeq, Jul 2008]
Known Variants881 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1461713213 | 3:12,625,172 | G/A | — | uncertain significance |
| rs2058212896 | 3:12,625,173 | T/A | — | uncertain significance |
| rs1466261579 | 3:12,625,307 | G/A | — | uncertain significance |
| rs1457071879 | 3:12,625,366 | C/A | — | uncertain significance |
| rs932173134 | 3:12,625,370 | G/C | — | uncertain significance |
| rs759464247 | 3:12,625,373 | A/G | — | uncertain significance |
| rs975583754 | 3:12,625,383 | T/C | — | uncertain significance |
| rs374944110 | 3:12,625,385 | C/A | — | uncertain significance |
| rs879160471 | 3:12,625,386 | G/A | — | uncertain significance |
| rs556460176 | 3:12,625,407 | T/C | — | likely benign |
| rs187286358 | 3:12,625,457 | C/T | — | likely benign |
| rs12808 | 3:12,625,518 | G/A | — | likely benign |
| rs1055682241 | 3:12,625,603 | T/C | — | uncertain significance |
| rs150460686 | 3:12,625,609 | C/T | — | likely benign |
| rs5746247 | 3:12,625,665 | A/G | — | likely benign |
| rs1051208 | 3:12,625,747 | G/A | regulatory region variant | benign |
| rs528863135 | 3:12,625,823 | C/T | — | conflicting classifications of pathogenicity |
| rs886057913 | 3:12,625,851 | A/G | — | uncertain significance |
| rs5746246 | 3:12,625,853 | G/A | — | likely benign |
| rs1575528605 | 3:12,625,893 | G/T | — | uncertain significance |
| rs886057914 | 3:12,625,900 | A/C | — | uncertain significance |
| rs550188508 | 3:12,625,903 | A/G | — | likely benign |
| rs2229757 | 3:12,625,930 | G/A | — | benign |
| rs932588742 | 3:12,625,940 | A/T | — | uncertain significance |
| rs730880998 | 3:12,626,011 | A/C | — | conflicting classifications of pathogenicity |
| rs1471833190 | 3:12,626,013 | C/G | — | uncertain significance |
| rs760591831 | 3:12,626,017 | A/G | — | uncertain significance |
| rs730881008 | 3:12,626,021 | C/T | — | uncertain significance |
| rs2470168353 | 3:12,626,022 | A/G | — | likely benign |
| rs1060503152 | 3:12,626,024 | G/A | — | uncertain significance |
| rs2125315743 | 3:12,626,028 | C/T | — | likely benign |
| rs142051431 | 3:12,626,031 | C/T | — | likely benign |
| rs1382398408 | 3:12,626,032 | G/A | — | uncertain significance |
| rs876657967 | 3:12,626,033 | G/A | — | uncertain significance |
| rs903510533 | 3:12,626,034 | G/C | — | likely benign |
| rs148528418 | 3:12,626,037 | C/T | — | likely benign |
| rs587777587 | 3:12,626,038 | G/A | missense variant | pathogenic |
| rs1183812590 | 3:12,626,039 | T/C | — | uncertain significance |
| rs151027203 | 3:12,626,043 | C/T | — | likely benign |
| rs144876026 | 3:12,626,046 | C/T | — | benign |
| rs730881007 | 3:12,626,047 | G/A | — | conflicting classifications of pathogenicity |
| rs2125315981 | 3:12,626,048 | T/A | — | uncertain significance |
| rs769639669 | 3:12,626,050 | C/T | — | uncertain significance |
| rs2058256303 | 3:12,626,053 | G/A | — | uncertain significance |
| rs2125316071 | 3:12,626,055 | A/G | — | likely benign |
| rs772585174 | 3:12,626,056 | T/C | — | uncertain significance |
| rs1013186582 | 3:12,626,059 | A/G | — | uncertain significance |
| rs1286582905 | 3:12,626,061 | A/G | — | likely benign |
| rs2125316155 | 3:12,626,062 | T/C | — | uncertain significance |
| rs1352545039 | 3:12,626,063 | C/T | — | uncertain significance |
| rs1160576234 | 3:12,626,064 | C/G | — | uncertain significance |
| rs2125316223 | 3:12,626,066 | C/T | — | uncertain significance |
| rs1183057432 | 3:12,626,069 | T/C | — | uncertain significance |
| rs2125316287 | 3:12,626,071 | T/C | — | uncertain significance |
| rs1228678241 | 3:12,626,074 | G/C | — | uncertain significance |
| rs1243841152 | 3:12,626,075 | C/A | — | likely benign |
| rs730881006 | 3:12,626,080 | C/T | — | uncertain significance |
| rs730881005 | 3:12,626,081 | G/A | — | uncertain significance |
| rs1553609795 | 3:12,626,083 | T/C | — | conflicting classifications of pathogenicity |
| rs767277606 | 3:12,626,085 | C/T | — | likely benign |
| rs1057524239 | 3:12,626,089 | G/C | — | conflicting classifications of pathogenicity |
| rs941961989 | 3:12,626,091 | T/C | — | likely benign |
| rs373596121 | 3:12,626,093 | G/A | — | uncertain significance |
| rs1413563094 | 3:12,626,096 | C/T | — | uncertain significance |
| rs140756812 | 3:12,626,097 | G/A | — | likely benign |
| rs865905076 | 3:12,626,102 | C/T | — | uncertain significance |
| rs754017289 | 3:12,626,103 | G/A | — | likely benign |
| rs2125316729 | 3:12,626,106 | C/G | — | likely benign |
| rs2058259564 | 3:12,626,107 | C/T | — | uncertain significance |
| rs757290878 | 3:12,626,108 | G/A | — | uncertain significance |
| rs933142627 | 3:12,626,110 | T/C | — | uncertain significance |
| rs1240899335 | 3:12,626,112 | G/A | — | likely benign |
| rs200235582 | 3:12,626,118 | C/G | — | likely benign |
| rs1358060804 | 3:12,626,119 | G/A | — | uncertain significance |
| rs80338797 | 3:12,626,123 | G/T | missense variant | pathogenic |
| rs2125316996 | 3:12,626,124 | A/G | — | likely benign |
| rs1319525639 | 3:12,626,125 | G/C | — | uncertain significance |
| rs1448392469 | 3:12,626,126 | A/T | — | uncertain significance |
| rs1051484872 | 3:12,626,127 | G/A | — | likely benign |
| rs2058261337 | 3:12,626,128 | T/G | — | uncertain significance |
| rs141791080 | 3:12,626,130 | T/C | — | benign |
| rs1348454083 | 3:12,626,133 | G/A | — | likely benign |
| rs1057523409 | 3:12,626,136 | C/T | — | likely benign |
| rs2058262007 | 3:12,626,138 | G/C | — | uncertain significance |
| rs747437834 | 3:12,626,139 | C/T | — | likely benign |
| rs730881004 | 3:12,626,146 | G/A | missense variant | uncertain significance |
| rs748925179 | 3:12,626,149 | G/A | — | uncertain significance |
| rs587777586 | 3:12,626,152 | A/G | missense variant | pathogenic |
| rs1420280008 | 3:12,626,153 | G/T | — | uncertain significance |
| rs2058262829 | 3:12,626,154 | G/T | — | likely benign |
| rs770426112 | 3:12,626,163 | C/G | — | likely benign |
| rs2125317565 | 3:12,626,169 | C/G | — | likely benign |
| rs1476735590 | 3:12,626,172 | A/C | — | likely benign |
| rs771581848 | 3:12,626,326 | C/G | — | likely benign |
| rs779897703 | 3:12,626,328 | A/G | — | likely benign |
| rs1216386766 | 3:12,626,330 | C/T | — | likely benign |
| rs778164265 | 3:12,626,331 | A/C | — | likely benign |
| rs2125319153 | 3:12,626,337 | G/A | — | likely benign |
| rs1553609870 | 3:12,626,340 | C/G | — | conflicting classifications of pathogenicity |
| rs1398402832 | 3:12,626,347 | T/C | — | uncertain significance |
Showing 100 of 881 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.