| Gene ID | 8935 |
| Symbol | SKAP2 |
| Synonymous | PRAP|RA70|SAPS|SCAP2|SKAP-HOM|SKAP55R |
| Full name | src kinase associated phosphoprotein 2 |
| Gene description | Fyn-associated phosphoprotein SKAP55 homologue|Pyk2/RAFTK-associated protein|SKAP-55HOM|SKAP55 homolog|retinoic acid-induced protein 70|src family-associated phosphoprotein 2|src kinase-associated phosphoprotein 2|src kinase-associated phosphoprotein of 5 |
| Cytoband | 7p15.2 |
| Gene type | protein-coding |
| Synonymous | MIM:605215; HGNC:HGNC:15687; Ensembl:ENSG00000005020; HPRD:05558; Vega:OTTHUMG00000023495 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.290A>G; p.D97G; 7:26844047-26844047 |
skin | malignant_melanoma | Substitution - Missense |
c.1018G>T; p.E340*; 7:26670162-26670162 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.384A>C; p.K128N; 7:26739888-26739888 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.362G>T; p.G121V; 7:26739910-26739910 |
skin | malignant_melanoma | Substitution - Missense |
c.584G>A; p.R195H; 7:26726892-26726892 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.584G>A; p.R195H; 7:26726892-26726892 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.11C>T; p.P4L; 7:26864419-26864419 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1028G>A; p.G343E; 7:26670152-26670152 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.470-1G>T; p.?; 7:26727007-26727007 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.808G>T; p.D270Y; 7:26690351-26690351 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.406G>C; p.E136Q; 7:26738858-26738858 |
breast | carcinoma | Substitution - Missense |
c.949T>G; p.S317A; 7:26684774-26684774 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.727C>G; p.P243A; 7:26725497-26725497 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.473A>G; p.K158R; 7:26727003-26727003 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.377G>A; p.R126H; 7:26739895-26739895 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.313C>T; p.Q105*; 7:26739959-26739959 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.30C>T; p.P10P; 7:26864400-26864400 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.423G>T; p.W141C; 7:26738841-26738841 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.162T>C; p.D54D; 7:26854796-26854796 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.641T>G; p.L214R; 7:26725940-26725940 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.583C>T; p.R195C; 7:26726893-26726893 |
thyroid | carcinoma | Substitution - Missense |
c.418C>T; p.R140W; 7:26738846-26738846 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.418C>T; p.R140W; 7:26738846-26738846 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.577G>T; p.D193Y; 7:26726899-26726899 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.14G>A; p.S5N; 7:26864416-26864416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.678T>G; p.I226M; 7:26725546-26725546 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.529C>T; p.L177L; 7:26726947-26726947 |
skin | malignant_melanoma | Substitution - coding silent |
c.215G>T; p.G72V; 7:26844122-26844122 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523A>T; p.N175Y; 7:26726953-26726953 |
skin | malignant_melanoma | Substitution - Missense |
c.175T>C; p.Y59H; 7:26854161-26854161 |
skin | malignant_melanoma | Substitution - Missense |
c.857G>A; p.S286N; 7:26690302-26690302 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.780T>G; p.I260M; 7:26725444-26725444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.160G>T; p.D54Y; 7:26854798-26854798 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.59T>C; p.L20P; 7:26864371-26864371 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.376C>T; p.R126C; 7:26739896-26739896 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.376C>T; p.R126C; 7:26739896-26739896 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.851A>G; p.Q284R; 7:26690308-26690308 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1013_1014delTA; p.V338fs*12; 7:26670166-26670167 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.664G>A; p.E222K; 7:26725560-26725560 |
skin | malignant_melanoma | Substitution - Missense |
c.271G>A; p.E91K; 7:26844066-26844066 |
skin | malignant_melanoma | Substitution - Missense |
c.235T>A; p.F79I; 7:26844102-26844102 |
NS | malignant_melanoma | Substitution - Missense |
c.382A>G; p.K128E; 7:26739890-26739890 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.200-7_200-6delTT; p.?; 7:26844143-26844144 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.200-7_200-6delTT; p.?; 7:26844143-26844144 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.668C>T; p.S223F; 7:26725556-26725556 |
skin | malignant_melanoma | Substitution - Missense |
c.820G>A; p.V274M; 7:26690339-26690339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.849T>C; p.S283S; 7:26690310-26690310 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.682G>A; p.E228K; 7:26725542-26725542 |
breast | carcinoma | Substitution - Missense |
c.140C>T; p.S47F; 7:26854818-26854818 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.948G>T; p.L316F; 7:26684775-26684775 |
pancreas | NS | Substitution - Missense |
c.583C>G; p.R195G; 7:26726893-26726893 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.478C>T; p.Q160*; 7:26726998-26726998 |
skin | malignant_melanoma | Substitution - Nonsense |
c.979C>A; p.L327I; 7:26684744-26684744 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.718G>C; p.V240L; 7:26725506-26725506 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.805G>C; p.E269Q; 7:26690354-26690354 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.567C>A; p.I189I; 7:26726909-26726909 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.725A>T; p.H242L; 7:26725499-26725499 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1014A>G; p.V338V; 7:26670166-26670166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1009T>G; p.W337G; 7:26670171-26670171 |
liver | carcinoma | Substitution - Missense |
c.1009T>G; p.W337G; 7:26670171-26670171 |
thyroid | other; neoplasm | Substitution - Missense |
c.430C>T; p.L144F; 7:26738834-26738834 |
skin | malignant_melanoma | Substitution - Missense |
c.353T>A; p.L118Q; 7:26739919-26739919 |
liver | carcinoma | Substitution - Missense |
c.353T>A; p.L118Q; 7:26739919-26739919 |
liver | carcinoma | Substitution - Missense |
c.201T>G; p.G67G; 7:26844136-26844136 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.201T>G; p.G67G; 7:26844136-26844136 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.938C>A; p.S313Y; 7:26684785-26684785 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.734C>T; p.P245L; 7:26725490-26725490 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>A; p.V240I; 7:26725506-26725506 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.718G>A; p.V240I; 7:26725506-26725506 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.599C>T; p.T200I; 7:26725982-26725982 |
kidney | other; neoplasm | Substitution - Missense |
c.1048A>G; p.K350E; 7:26670132-26670132 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.250G>T; p.D84Y; 7:26844087-26844087 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.703G>T; p.E235*; 7:26725521-26725521 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.703G>T; p.E235*; 7:26725521-26725521 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.703G>T; p.E235*; 7:26725521-26725521 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.157A>C; p.K53Q; 7:26854801-26854801 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1033A>G; p.I345V; 7:26670147-26670147 |
liver | carcinoma | Substitution - Missense |
c.1033A>G; p.I345V; 7:26670147-26670147 |
liver | carcinoma | Substitution - Missense |
c.928G>A; p.G310R; 7:26684795-26684795 |
skin | malignant_melanoma | Substitution - Missense |
c.772G>A; p.D258N; 7:26725452-26725452 |
skin; mucosal | malignant_melanoma | Substitution - Missense |