| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6690 |
Name | SPINK1 |
Synonymous | PCTT|PSTI|Spink3|TATI|TCP;serine peptidase inhibitor, Kazal type 1;SPINK1;serine peptidase inhibitor, Kazal type 1 |
Definition | pancreatic secretory trypsin inhibitor|serine protease inhibitor Kazal-type 1|serine protease inhibitor, Kazal type 1|tumor-associated trypsin inhibitor |
Position | 5q32 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SPINK1 | ||
PCGP somatic mutation [Top] | ||
There is no record for SPINK1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.199C>T; p.R67C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1_11del11; p.?; |
lung | carcinoma; adenocarcinoma |
c.163C>T; p.P55S; |
skin; trunk | malignant_melanoma |
c.22C>T; p.L8F; |
skin; upper_leg | malignant_melanoma |
c.37G>A; p.A13T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.204G>A; p.Q68Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.143_144GG>AA; p.G48E; |
skin | malignant_melanoma |
c.38C>T; p.A13V; |
skin | malignant_melanoma |
c.22C>T; p.L8F; |
skin; mucosal | malignant_melanoma |