RAP1A
RAP1A, member of RAS oncogene family
Summary
This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1539583 | 1:112,095,796 | A/C | — | — |
| rs10776733 | 1:112,107,669 | A/G | regulatory region variant | — |
| rs72981097 | 1:112,127,164 | A/G | intron variant | — |
| rs72695265 | 1:112,155,679 | C/G | — | — |
| rs12024366 | 1:112,158,504 | A/G | regulatory region variant | — |
| rs72695280 | 1:112,174,655 | G/A | intron variant | — |
| rs494453 | 1:112,192,122 | T/C | coding sequence variant | — |
| rs473068 | 1:112,195,091 | A/G | upstream gene variant | — |
| rs7525578 | 1:112,216,961 | C/T | intron variant | — |
| rs34075261 | 1:112,233,741 | C/T | — | benign |
| rs41306209 | 1:112,233,798 | A/G | — | benign |
| rs375728545 | 1:112,233,987 | G/A | — | uncertain significance |
| rs506070 | 1:112,234,068 | T/A | — | benign |
| rs10489469 | 1:112,234,084 | G/T | — | benign |
| rs10489470 | 1:112,234,215 | C/T | — | benign |
| rs7525307 | 1:112,237,915 | A/T | — | benign |
| rs749758291 | 1:112,237,954 | T/C | — | likely benign |
| rs141862905 | 1:112,237,974 | T/C | — | likely benign |
| rs12723732 | 1:112,238,216 | A/G | — | benign |
| rs2365323 | 1:112,239,851 | C/T | — | benign |
| rs748245059 | 1:112,240,053 | G/T | — | likely benign |
| rs773548444 | 1:112,240,054 | C/G | — | likely benign |
| rs377603275 | 1:112,240,074 | C/T | — | likely benign |
| rs72991083 | 1:112,240,125 | G/A | — | benign |
| rs747060981 | 1:112,246,091 | C/T | — | uncertain significance |
| rs374282055 | 1:112,246,971 | A/G | — | uncertain significance |
| rs774214226 | 1:112,247,056 | G/A | — | uncertain significance |
| rs771755209 | 1:112,247,066 | C/A | — | likely benign |
| rs147771787 | 1:112,251,854 | C/T | — | likely benign |
| rs563083 | 1:112,251,902 | C/T | — | benign |
| rs3738300 | 1:112,251,983 | C/G | — | benign |
| rs6573 | 1:112,255,389 | C/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.