| Gene ID | 653509 |
| Symbol | SFTPA1 |
| Synonymous | COLEC4|PSAP|PSP-A|PSPA|SFTP1|SFTPA1B|SP-A|SP-A1|SPA|SPA1 |
| Full name | surfactant protein A1 |
| Gene description | 35 kDa pulmonary surfactant-associated protein|alveolar proteinosis protein|collectin-4|pulmonary surfactant-associated protein A1|surfactant protein A1 variant AB'D' 6A|surfactant protein A1 variant AB'D' 6A2|surfactant protein A1 variant AB'D' 6A3|surfa |
| Cytoband | 10q22.3 |
| Gene type | protein-coding |
| Synonymous | MIM:178630; HGNC:HGNC:10798; Ensembl:ENSG00000122852; Vega:OTTHUMG00000018565 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.639C>T; p.F213F; 10:79613960-79613960 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.686G>A; p.G229E; 10:79614007-79614007 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.23-5T>A; p.?; 10:79611798-79611798 |
liver | carcinoma | Unknown |
c.23-5T>A; p.?; 10:79611798-79611798 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.653G>A; p.G218E; 10:79613974-79613974 |
skin | malignant_melanoma | Substitution - Missense |
c.653G>A; p.G218E; 10:79613974-79613974 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.267G>A; p.G89G; 10:79612361-79612361 |
skin | malignant_melanoma | Substitution - coding silent |
c.705_706delAA; p.K236fs*14; 10:79614026-79614027 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Deletion - Frameshift |
c.275G>T; p.G92V; 10:79612369-79612369 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.281C>A; p.P94H; 10:79612375-79612375 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.122G>T; p.C41F; 10:79611902-79611902 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.770G>A; p.R257Q; 10:79614091-79614091 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.122G>T; p.C41F; 10:79611902-79611902 |
prostate | carcinoma | Substitution - Missense |
c.647C>T; p.S216L; 10:79613968-79613968 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.141C>T; p.I47I; 10:79611921-79611921 |
skin | malignant_melanoma | Substitution - coding silent |
c.279C>T; p.A93A; 10:79612373-79612373 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.537C>T; p.V179V; 10:79613858-79613858 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.597T>C; p.Y199Y; 10:79613918-79613918 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.90C>A; p.A30A; 10:79611870-79611870 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.226G>A; p.G76S; 10:79612320-79612320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.627C>T; p.S209S; 10:79613948-79613948 |
skin | malignant_melanoma | Substitution - coding silent |
c.420C>T; p.L140L; 10:79613741-79613741 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.627C>T; p.S209S; 10:79613948-79613948 |
skin | malignant_melanoma | Substitution - coding silent |
c.313G>A; p.E105K; 10:79612407-79612407 |
skin | malignant_melanoma | Substitution - Missense |
c.700C>T; p.R234W; 10:79614021-79614021 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.683G>A; p.R228Q; 10:79614004-79614004 |
skin | malignant_melanoma | Substitution - Missense |
c.694G>A; p.A232T; 10:79614015-79614015 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.327G>A; p.R109R; 10:79612421-79612421 |
prostate | adenoma | Substitution - coding silent |
c.327G>A; p.R109R; 10:79612421-79612421 |
liver | carcinoma | Substitution - coding silent |
c.622C>T; p.P208S; 10:79613943-79613943 |
skin | malignant_melanoma | Substitution - Missense |
c.674A>G; p.N225S; 10:79613995-79613995 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.681C>T; p.Y227Y; 10:79614002-79614002 |
skin | malignant_melanoma | Substitution - coding silent |
c.640C>T; p.R214C; 10:79613961-79613961 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.702G>A; p.R234R; 10:79614023-79614023 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.465C>T; p.S155S; 10:79613786-79613786 |
thyroid | other; neoplasm | Substitution - coding silent |
c.540A>T; p.P180P; 10:79613861-79613861 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.265G>A; p.G89R; 10:79612359-79612359 |
skin | malignant_melanoma | Substitution - Missense |
c.101T>C; p.V34A; 10:79611881-79611881 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.101T>C; p.V34A; 10:79611881-79611881 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.101T>C; p.V34A; 10:79611881-79611881 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586T>C; p.Y196H; 10:79613907-79613907 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>A; p.E108K; 10:79612416-79612416 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.320G>A; p.G107D; 10:79612414-79612414 |
liver | carcinoma | Substitution - Missense |
c.320G>A; p.G107D; 10:79612414-79612414 |
liver | carcinoma | Substitution - Missense |
c.320G>A; p.G107D; 10:79612414-79612414 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.162C>T; p.H54H; 10:79611942-79611942 |
thyroid | other; neoplasm | Substitution - coding silent |
c.753G>A; p.R251R; 10:79614074-79614074 |
skin | malignant_melanoma | Substitution - coding silent |
c.379C>A; p.H127N; 10:79613230-79613230 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.41G>A; p.R14K; 10:79611821-79611821 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.177G>A; p.R59R; 10:79611957-79611957 |
skin | malignant_melanoma | Substitution - coding silent |
c.231A>G; p.P77P; 10:79612325-79612325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.288C>T; p.I96I; 10:79612382-79612382 |
breast | carcinoma | Substitution - coding silent |
c.111G>C; p.V37V; 10:79611891-79611891 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.777C>T; p.T259T; 10:79614098-79614098 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
thyroid | other; neoplasm | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.193C>G; p.L65V; 10:79611973-79611973 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.418C>G; p.L140V; 10:79613739-79613739 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.712C>A; p.Q238K; 10:79614033-79614033 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.553G>A; p.E185K; 10:79613874-79613874 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.328G>A; p.G110S; 10:79612422-79612422 |
skin | malignant_melanoma | Substitution - Missense |
c.410G>A; p.R137K; 10:79613261-79613261 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |