| Gene ID | 6185 |
| Symbol | RPN2 |
| Synonymous | RIBIIR|RPN-II|RPNII|SWP1 |
| Full name | ribophorin II |
| Gene description | dolichyl-diphosphooligosaccharide--protein glycosyltransferase 63 kDa subunit|dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2|oligosaccharyltransferase complex subunit (non-catalytic)|ribophorin-2 |
| Cytoband | 20q12-q13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:180490; HGNC:HGNC:10382; Ensembl:ENSG00000118705; HPRD:01609; Vega:OTTHUMG00000032409 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1839G>A; p.T613T; 20:37236665-37236665 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1839G>A; p.T613T; 20:37236665-37236665 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1015G>A; p.V339I; 20:37213788-37213788 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1511A>G; p.K504R; 20:37229989-37229989 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.127C>T; p.R43C; 20:37184293-37184293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1461T>C; p.D487D; 20:37228711-37228711 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.781G>C; p.V261L; 20:37207363-37207363 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1722T>C; p.P574P; 20:37234064-37234064 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1726A>G; p.T576A; 20:37234068-37234068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1096A>G; p.R366G; 20:37223881-37223881 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.308C>G; p.S103C; 20:37199054-37199054 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1343T>G; p.V448G; 20:37228593-37228593 |
breast | carcinoma | Substitution - Missense |
c.99C>T; p.D33D; 20:37184265-37184265 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1536G>A; p.S512S; 20:37230014-37230014 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1031G>T; p.G344V; 20:37213804-37213804 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1242C>T; p.F414F; 20:37225745-37225745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.104A>G; p.E35G; 20:37184270-37184270 |
pancreas | other; adenoma | Substitution - Missense |
c.975C>T; p.F325F; 20:37210154-37210154 |
skin | malignant_melanoma | Substitution - coding silent |
c.451C>T; p.R151C; 20:37199197-37199197 |
skin | malignant_melanoma | Substitution - Missense |
c.211G>T; p.A71S; 20:37198400-37198400 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1612C>T; p.P538S; 20:37232326-37232326 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1048G>T; p.V350F; 20:37213821-37213821 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.715G>A; p.A239T; 20:37207297-37207297 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.582C>T; p.L194L; 20:37204793-37204793 |
pancreas | carcinoma | Substitution - coding silent |
c.1878C>G; p.V626V; 20:37236704-37236704 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.304-10T>G; p.?; 20:37199040-37199040 |
liver | carcinoma | Unknown |
c.304-10T>G; p.?; 20:37199040-37199040 |
liver | carcinoma | Unknown |
c.304-10T>G; p.?; 20:37199040-37199040 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.499A>G; p.T167A; 20:37203904-37203904 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1564C>A; p.P522T; 20:37230042-37230042 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.703C>T; p.Q235*; 20:37207285-37207285 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1309C>T; p.R437*; 20:37228559-37228559 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.825T>C; p.P275P; 20:37207407-37207407 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.825T>C; p.P275P; 20:37207407-37207407 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.803A>G; p.H268R; 20:37207385-37207385 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.989A>G; p.D330G; 20:37213762-37213762 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1371C>T; p.N457N; 20:37228621-37228621 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.199G>T; p.D67Y; 20:37184365-37184365 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.92A>G; p.K31R; 20:37184258-37184258 |
skin | malignant_melanoma | Substitution - Missense |
c.1719T>C; p.A573A; 20:37234061-37234061 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.524C>G; p.A175G; 20:37203929-37203929 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.796C>T; p.R266C; 20:37207378-37207378 |
skin; sole | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.1408A>G; p.I470V; 20:37228658-37228658 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.155T>C; p.F52S; 20:37184321-37184321 |
haematopoietic_and_lymphoid_tissue; breast | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1230C>T; p.S410S; 20:37225733-37225733 |
skin | malignant_melanoma | Substitution - coding silent |
c.479C>T; p.A160V; 20:37199225-37199225 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1727C>T; p.T576M; 20:37234069-37234069 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1254C>T; p.F418F; 20:37225757-37225757 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1589T>C; p.F530S; 20:37232303-37232303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1464C>A; p.A488A; 20:37228714-37228714 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1704C>T; p.S568S; 20:37234046-37234046 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.166G>A; p.V56M; 20:37184332-37184332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1701C>T; p.V567V; 20:37234043-37234043 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.567T>G; p.A189A; 20:37204778-37204778 |
skin | malignant_melanoma | Substitution - coding silent |
c.1700T>C; p.V567A; 20:37234042-37234042 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.442C>T; p.L148F; 20:37199188-37199188 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1700T>C; p.V567A; 20:37234042-37234042 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.636G>C; p.V212V; 20:37204847-37204847 |
pancreas | carcinoma | Substitution - coding silent |
c.1071G>A; p.R357R; 20:37213844-37213844 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.367A>G; p.T123A; 20:37199113-37199113 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1532C>A; p.P511H; 20:37230010-37230010 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.751G>A; p.E251K; 20:37207333-37207333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.751G>A; p.E251K; 20:37207333-37207333 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.643A>C; p.T215P; 20:37204854-37204854 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1693G>T; p.A565S; 20:37234035-37234035 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1063G>T; p.D355Y; 20:37213836-37213836 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.654C>T; p.L218L; 20:37204865-37204865 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.654C>T; p.L218L; 20:37204865-37204865 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1579C>T; p.Q527*; 20:37230057-37230057 |
breast | carcinoma | Substitution - Nonsense |
c.34T>C; p.L12L; 20:37184200-37184200 |
skin | malignant_melanoma | Substitution - coding silent |
c.1565C>T; p.P522L; 20:37230043-37230043 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.71C>T; p.T24M; 20:37184237-37184237 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.301G>T; p.E101*; 20:37198490-37198490 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1701C>A; p.V567V; 20:37234043-37234043 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1372G>T; p.V458L; 20:37228622-37228622 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.135C>G; p.F45L; 20:37184301-37184301 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.215G>A; p.C72Y; 20:37198404-37198404 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.821T>A; p.V274E; 20:37207403-37207403 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1379A>C; p.K460T; 20:37228629-37228629 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.681C>T; p.S227S; 20:37204892-37204892 |
skin | malignant_melanoma | Substitution - coding silent |
c.435C>G; p.L145L; 20:37199181-37199181 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.125A>G; p.D42G; 20:37184291-37184291 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.946A>G; p.R316G; 20:37210125-37210125 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1699G>A; p.V567I; 20:37234041-37234041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.789G>A; p.S263S; 20:37207371-37207371 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.412C>T; p.P138S; 20:37199158-37199158 |
skin | malignant_melanoma | Substitution - Missense |
c.1824C>T; p.I608I; 20:37236650-37236650 |
skin | malignant_melanoma | Substitution - coding silent |
c.1304T>C; p.F435S; 20:37228554-37228554 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1656G>T; p.P552P; 20:37232370-37232370 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1611C>T; p.P537P; 20:37232325-37232325 |
skin | malignant_melanoma | Substitution - coding silent |
c.1825C>T; p.L609L; 20:37236651-37236651 |
thyroid | other; neoplasm | Substitution - coding silent |