| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 6690 |
Name | SPINK1 |
Synonymous | serine peptidase inhibitor, Kazal type 1;SPINK1;serine peptidase inhibitor, Kazal type 1 |
Definition | pancreatic secretory trypsin inhibitor|serine protease inhibitor, Kazal type 1|tumor-associated trypsin inhibitor |
Position | 5q32 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.204G>A; p.Q68Q; 5:147824697-147824697 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.199C>T; p.R67C; 5:147824702-147824702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.37G>A; p.A13T; 5:147831541-147831541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.38C>T; p.A13V; 5:147831540-147831540 |
skin | malignant_melanoma | Substitution - Missense |
c.177G>A; p.V59V; 5:147828039-147828039 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.163C>T; p.P55S; 5:147828053-147828053 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.22C>T; p.L8F; 5:147831556-147831556 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.22C>T; p.L8F; 5:147831556-147831556 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.27C>T; p.L9L; 5:147831551-147831551 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.27C>T; p.L9L; 5:147831551-147831551 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.184T>C; p.F62L; 5:147828032-147828032 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.143_144GG>AA; p.G48E; 5:147828072-147828073 |
skin | malignant_melanoma | Substitution - Missense |
c.133C>T; p.P45S; 5:147828083-147828083 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.127T>C; p.Y43H; 5:147828089-147828089 |
pancreas | carcinoma | Substitution - Missense |