| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 6013 |
Name | RLN1 |
Synonymous | relaxin 1;RLN1;relaxin 1 |
Definition | preprorelaxin H1|prorelaxin H1 |
Position | 9p24.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.16T>C; p.L6L; 9:5339731-5339731 |
lung | carcinoid-endocrine_tumour; typical | Substitution - coding silent |
c.506A>C; p.E169A; 9:5335303-5335303 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.15C>T; p.F5F; 9:5339732-5339732 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.339G>A; p.Q113Q; 9:5335470-5335470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.339G>A; p.Q113Q; 9:5335470-5335470 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.485G>C; p.R162P; 9:5335324-5335324 |
skin | malignant_melanoma | Substitution - Missense |
c.270C>A; p.F90L; 9:5335539-5335539 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.488C>T; p.P163L; 9:5335321-5335321 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.53A>C; p.Q18P; 9:5339694-5339694 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.436T>G; p.S146A; 9:5335373-5335373 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.250A>G; p.I84V; 9:5335559-5335559 |
breast | carcinoma | Substitution - Missense |
c.238G>A; p.D80N; 9:5335571-5335571 |
skin | malignant_melanoma | Substitution - Missense |
c.485G>A; p.R162Q; 9:5335324-5335324 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.485G>A; p.R162Q; 9:5335324-5335324 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.157A>G; p.S53G; 9:5339590-5339590 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.110G>A; p.R37H; 9:5339637-5339637 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.321A>T; p.P107P; 9:5335488-5335488 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.401G>A; p.R134H; 9:5335408-5335408 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.259A>G; p.M87V; 9:5335550-5335550 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.123C>T; p.R41R; 9:5339624-5339624 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.9C>T; p.R3R; 9:5339738-5339738 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.360G>A; p.K120K; 9:5335449-5335449 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.394C>G; p.L132V; 9:5335415-5335415 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.18G>T; p.L6F; 9:5339729-5339729 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.45A>G; p.L15L; 9:5339702-5339702 |
liver | carcinoma | Substitution - coding silent |
c.45A>G; p.L15L; 9:5339702-5339702 |
liver | carcinoma | Substitution - coding silent |
c.32A>G; p.E11G; 9:5339715-5339715 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.540T>C; p.S180S; 9:5335269-5335269 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.382G>T; p.E128*; 9:5335427-5335427 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.539C>A; p.S180Y; 9:5335270-5335270 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.493G>A; p.V165M; 9:5335316-5335316 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.67G>C; p.V23L; 9:5339680-5339680 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.131T>A; p.I44N; 9:5339616-5339616 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.400C>T; p.R134C; 9:5335409-5335409 |
skin | malignant_melanoma | Substitution - Missense |
c.400C>T; p.R134C; 9:5335409-5335409 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.400C>T; p.R134C; 9:5335409-5335409 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.34T>G; p.F12V; 9:5339713-5339713 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.79T>C; p.W27R; 9:5339668-5339668 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |