| Gene ID | 9564 |
| Symbol | BCAR1 |
| Synonymous | CAS|CAS1|CASS1|CRKAS|P130Cas |
| Full name | breast cancer anti-estrogen resistance 1 |
| Gene description | Cas scaffolding protein family member 1|Crk-associated substrate p130Cas|breast cancer anti-estrogen resistance protein 1 |
| Cytoband | 16q23.1 |
| Gene type | protein-coding |
| Synonymous | MIM:602941; HGNC:HGNC:971; Ensembl:ENSG00000050820; HPRD:04248; Vega:OTTHUMG00000137604 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.237C>T; p.P79P; 16:75242866-75242866 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - coding silent |
c.110C>T; p.T37M; 16:75242993-75242993 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1574C>T; p.A525V; 16:75235325-75235325 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2427C>T; p.R809R; 16:75229697-75229697 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1838C>T; p.P613L; 16:75235061-75235061 |
skin | malignant_melanoma | Substitution - Missense |
c.88A>G; p.M30V; 16:75243015-75243015 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1802C>A; p.A601D; 16:75235097-75235097 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2386G>A; p.G796R; 16:75229738-75229738 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2169G>A; p.T723T; 16:75229955-75229955 |
bone; calcaneus | chondrosarcoma | Substitution - coding silent |
c.2206C>T; p.L736L; 16:75229918-75229918 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1220G>C; p.S407T; 16:75235679-75235679 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1220G>C; p.S407T; 16:75235679-75235679 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1385_1386CC>TT; p.A462V; 16:75235513-75235514 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1812C>A; p.L604L; 16:75235087-75235087 |
skin | malignant_melanoma | Substitution - coding silent |
c.826G>T; p.G276C; 16:75236968-75236968 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2168C>T; p.T723M; 16:75229956-75229956 |
stomach | adenocarcinoma | Substitution - Missense |
c.2239T>C; p.Y747H; 16:75229885-75229885 |
breast | carcinoma | Substitution - Missense |
c.2189C>T; p.P730L; 16:75229935-75229935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1251A>G; p.E417E; 16:75235648-75235648 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2041G>T; p.E681*; 16:75233905-75233905 |
breast | carcinoma | Substitution - Nonsense |
c.2466C>T; p.L822L; 16:75229658-75229658 |
skin | malignant_melanoma | Substitution - coding silent |
c.1472G>T; p.R491L; 16:75235427-75235427 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1485G>T; p.E495D; 16:75235414-75235414 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.830C>T; p.P277L; 16:75236964-75236964 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1148C>T; p.P383L; 16:75235751-75235751 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.274C>A; p.P92T; 16:75242829-75242829 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.99_100GG>TT; p.E34*; 16:75243003-75243004 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2608G>A; p.A870T; 16:75229516-75229516 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2126A>T; p.Q709L; 16:75229998-75229998 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.393G>C; p.P131P; 16:75242710-75242710 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.554C>T; p.A185V; 16:75242549-75242549 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.226C>G; p.P76A; 16:75242877-75242877 |
liver | carcinoma | Substitution - Missense |
c.1450G>A; p.A484T; 16:75235449-75235449 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1623T>A; p.L541L; 16:75235276-75235276 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1471C>T; p.R491C; 16:75235428-75235428 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2199A>C; p.T733T; 16:75229925-75229925 |
skin | malignant_melanoma | Substitution - coding silent |
c.1531G>A; p.V511I; 16:75235368-75235368 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.397C>A; p.P133T; 16:75242706-75242706 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2284G>T; p.V762L; 16:75229840-75229840 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1749G>A; p.S583S; 16:75235150-75235150 |
prostate | carcinoma | Substitution - coding silent |
c.2364C>T; p.S788S; 16:75229760-75229760 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2502C>T; p.A834A; 16:75229622-75229622 |
skin | malignant_melanoma | Substitution - coding silent |
c.553G>T; p.A185S; 16:75242550-75242550 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1147C>T; p.P383S; 16:75235752-75235752 |
skin | malignant_melanoma | Substitution - Missense |
c.1798A>T; p.N600Y; 16:75235101-75235101 |
skin | malignant_melanoma | Substitution - Missense |
c.2599C>T; p.L867L; 16:75229525-75229525 |
pancreas | carcinoma | Substitution - coding silent |
c.383A>G; p.Y128C; 16:75242720-75242720 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.627G>A; p.P209P; 16:75242476-75242476 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.968G>T; p.R323L; 16:75235931-75235931 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.472C>T; p.P158S; 16:75242631-75242631 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1863G>C; p.L621L; 16:75235036-75235036 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.601C>T; p.R201C; 16:75242502-75242502 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.702C>T; p.Y234Y; 16:75237276-75237276 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.226C>T; p.P76S; 16:75242877-75242877 |
thyroid | other; neoplasm | Substitution - Missense |
c.226C>T; p.P76S; 16:75242877-75242877 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.226C>T; p.P76S; 16:75242877-75242877 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.226C>T; p.P76S; 16:75242877-75242877 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2584C>T; p.R862C; 16:75229540-75229540 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.283C>T; p.P95S; 16:75242820-75242820 |
skin | malignant_melanoma | Substitution - Missense |
c.1083G>T; p.V361V; 16:75235816-75235816 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1290C>A; p.S430S; 16:75235609-75235609 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1320T>G; p.S440S; 16:75235579-75235579 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1320T>G; p.S440S; 16:75235579-75235579 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1320T>G; p.S440S; 16:75235579-75235579 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2240A>G; p.Y747C; 16:75229884-75229884 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1697G>A; p.R566Q; 16:75235202-75235202 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.100G>T; p.E34*; 16:75243003-75243003 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2290G>A; p.A764T; 16:75229834-75229834 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.377G>C; p.G126A; 16:75242726-75242726 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2402G>T; p.R801L; 16:75229722-75229722 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.710C>T; p.P237L; 16:75237268-75237268 |
breast | carcinoma | Substitution - Missense |
c.2238C>T; p.F746F; 16:75229886-75229886 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2326A>G; p.K776E; 16:75229798-75229798 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1117G>A; p.D373N; 16:75235782-75235782 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1929C>T; p.F643F; 16:75234970-75234970 |
skin | malignant_melanoma | Substitution - coding silent |
c.554C>A; p.A185D; 16:75242549-75242549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1472G>A; p.R491H; 16:75235427-75235427 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.2242C>T; p.L748L; 16:75229882-75229882 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.458C>A; p.P153H; 16:75242645-75242645 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1776G>T; p.Q592H; 16:75235123-75235123 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.246G>A; p.P82P; 16:75242857-75242857 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2385C>T; p.I795I; 16:75229739-75229739 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1573G>A; p.A525T; 16:75235326-75235326 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1726C>T; p.L576L; 16:75235173-75235173 |
skin | malignant_melanoma | Substitution - coding silent |
c.1263G>A; p.P421P; 16:75235636-75235636 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1263G>A; p.P421P; 16:75235636-75235636 |
thyroid | other; neoplasm | Substitution - coding silent |
c.467C>G; p.P156R; 16:75242636-75242636 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 16:75243054-75243054 |
liver | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 16:75243054-75243054 |
liver | carcinoma | Substitution - Missense |
c.629C>T; p.A210V; 16:75242474-75242474 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.2463C>T; p.D821D; 16:75229661-75229661 |
liver | carcinoma | Substitution - coding silent |
c.2463C>T; p.D821D; 16:75229661-75229661 |
liver | carcinoma | Substitution - coding silent |
c.813_814insC; p.M272fs*17; 16:75236980-75236981 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2425C>T; p.R809C; 16:75229699-75229699 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.176G>A; p.R59H; 16:75242927-75242927 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2301C>T; p.T767T; 16:75229823-75229823 |
skin | malignant_melanoma | Substitution - coding silent |
c.2257G>A; p.A753T; 16:75229867-75229867 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1983G>T; p.M661I; 16:75234916-75234916 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.602G>A; p.R201H; 16:75242501-75242501 |
skin | malignant_melanoma | Substitution - Missense |
c.870C>T; p.P290P; 16:75236924-75236924 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.955G>T; p.G319C; 16:75235944-75235944 |
liver | carcinoma | Substitution - Missense |
c.1794C>T; p.H598H; 16:75235105-75235105 |
thyroid | other; neoplasm | Substitution - coding silent |
c.99G>T; p.L33L; 16:75243004-75243004 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2606C>T; p.A869V; 16:75229518-75229518 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.241A>G; p.T81A; 16:75242862-75242862 |
skin | malignant_melanoma | Substitution - Missense |
c.2426G>A; p.R809H; 16:75229698-75229698 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2373G>A; p.K791K; 16:75229751-75229751 |
liver | carcinoma | Substitution - coding silent |
c.2373G>A; p.K791K; 16:75229751-75229751 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1162G>A; p.D388N; 16:75235737-75235737 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.626C>T; p.P209L; 16:75242477-75242477 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1568G>A; p.R523H; 16:75235331-75235331 |
prostate | carcinoma | Substitution - Missense |
c.249C>T; p.A83A; 16:75242854-75242854 |
skin | malignant_melanoma | Substitution - coding silent |
c.1964A>G; p.N655S; 16:75234935-75234935 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1094C>T; p.P365L; 16:75235805-75235805 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.295T>A; p.Y99N; 16:75242808-75242808 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2470C>T; p.R824C; 16:75229654-75229654 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.295T>A; p.Y99N; 16:75242808-75242808 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.398C>T; p.P133L; 16:75242705-75242705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2361C>T; p.L787L; 16:75229763-75229763 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1530T>C; p.A510A; 16:75235369-75235369 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1530T>C; p.A510A; 16:75235369-75235369 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1530T>C; p.A510A; 16:75235369-75235369 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.503C>T; p.P168L; 16:75242600-75242600 |
skin | malignant_melanoma | Substitution - Missense |
c.1869C>T; p.P623P; 16:75235030-75235030 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2339C>T; p.A780V; 16:75229785-75229785 |
skin | malignant_melanoma | Substitution - Missense |
c.2450A>T; p.N817I; 16:75229674-75229674 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1696C>T; p.R566W; 16:75235203-75235203 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2062A>G; p.I688V; 16:75233884-75233884 |
breast | carcinoma | Substitution - Missense |
c.860A>G; p.Y287C; 16:75236934-75236934 |
breast | carcinoma | Substitution - Missense |
c.2108A>G; p.Q703R; 16:75230016-75230016 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.837C>T; p.G279G; 16:75236957-75236957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2199A>G; p.T733T; 16:75229925-75229925 |
liver | carcinoma | Substitution - coding silent |
c.763C>T; p.R255W; 16:75237215-75237215 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.180C>T; p.L60L; 16:75242923-75242923 |
pancreas | carcinoma | Substitution - coding silent |
c.908A>G; p.H303R; 16:75236886-75236886 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.890T>G; p.L297R; 16:75236904-75236904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2100+2T>C; p.?; 16:75233844-75233844 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1233G>A; p.A411A; 16:75235666-75235666 |
pancreas | carcinoma | Substitution - coding silent |
c.564G>A; p.G188G; 16:75242539-75242539 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.564G>A; p.G188G; 16:75242539-75242539 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |