| Gene ID | 3856 |
| Symbol | KRT8 |
| Synonymous | CARD2|CK-8|CK8|CYK8|K2C8|K8|KO |
| Full name | keratin 8, type II |
| Gene description | cytokeratin 8|cytokeratin-8|keratin, type II cytoskeletal 8|type-II keratin Kb8 |
| Cytoband | 12q13 |
| Gene type | protein-coding |
| Synonymous | MIM:148060; HGNC:HGNC:6446; Ensembl:ENSG00000170421; HPRD:01015; Vega:OTTHUMG00000169881 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.181G>T; p.G61*; 12:52904801-52904801 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.873C>T; p.S291S; 12:52899883-52899883 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1262-2A>G; p.?; 12:52897620-52897620 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.284T>A; p.I95N; 12:52904698-52904698 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.92C>A; p.S31Y; 12:52904890-52904890 |
kidney | other; neoplasm | Substitution - Missense |
c.586A>G; p.I196V; 12:52901167-52901167 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1107G>T; p.R369R; 12:52898774-52898774 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.905G>A; p.R302H; 12:52899851-52899851 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.888C>T; p.H296H; 12:52899868-52899868 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.888C>T; p.H296H; 12:52899868-52899868 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.888C>T; p.H296H; 12:52899868-52899868 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.413_414insA; p.N138fs*11; 12:52901983-52901984 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.594_594+1insAA; p.D199fs*8; 12:52901158-52901159 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.888C>T; p.H296H; 12:52899868-52899868 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1448A>T; p.K483M; 12:52897432-52897432 |
skin | malignant_melanoma | Substitution - Missense |
c.802G>A; p.E268K; 12:52899954-52899954 |
skin | malignant_melanoma | Substitution - Missense |
c.1073C>T; p.A358V; 12:52898808-52898808 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1079T>C; p.L360P; 12:52898802-52898802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.878C>T; p.A293V; 12:52899878-52899878 |
skin | malignant_melanoma | Substitution - Missense |
c.1075G>A; p.A359T; 12:52898806-52898806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.338A>T; p.E113V; 12:52902059-52902059 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.399A>G; p.R133R; 12:52901998-52901998 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1329T>C; p.F443F; 12:52897551-52897551 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1102G>A; p.A368T; 12:52898779-52898779 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1050C>T; p.N350N; 12:52898831-52898831 |
ovary | other; neoplasm | Substitution - coding silent |
c.151G>C; p.G51R; 12:52904831-52904831 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.142G>C; p.G48R; 12:52904840-52904840 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.151G>C; p.G51R; 12:52904831-52904831 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.142G>C; p.G48R; 12:52904840-52904840 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1051G>A; p.A351T; 12:52898830-52898830 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.644A>T; p.E215V; 12:52900634-52900634 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1051G>A; p.A351T; 12:52898830-52898830 |
breast | carcinoma | Substitution - Missense |
c.1159G>A; p.E387K; 12:52898722-52898722 |
skin | malignant_melanoma | Substitution - Missense |
c.1115G>T; p.R372L; 12:52898766-52898766 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.285C>A; p.I95I; 12:52904697-52904697 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.509G>T; p.G170V; 12:52901888-52901888 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.723C>G; p.D241E; 12:52900033-52900033 |
ovary | other; neoplasm | Substitution - Missense |
c.1360C>G; p.R454G; 12:52897520-52897520 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.87C>T; p.P29P; 12:52904895-52904895 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1179G>T; p.K393N; 12:52898702-52898702 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.736C>T; p.L246L; 12:52900020-52900020 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.369G>C; p.W123C; 12:52902028-52902028 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.96C>T; p.R32R; 12:52904886-52904886 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.556C>T; p.R186C; 12:52901197-52901197 |
oesophagus | carcinoma | Substitution - Missense |
c.534-1G>T; p.?; 12:52901220-52901220 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.574G>A; p.E192K; 12:52901179-52901179 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.574G>A; p.E192K; 12:52901179-52901179 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1078C>A; p.L360M; 12:52898803-52898803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.67C>T; p.R23C; 12:52904915-52904915 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.67C>T; p.R23C; 12:52904915-52904915 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.67C>T; p.R23C; 12:52904915-52904915 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.67C>T; p.R23C; 12:52904915-52904915 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.67C>T; p.R23C; 12:52904915-52904915 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.26C>T; p.S9F; 12:52904956-52904956 |
skin | malignant_melanoma | Substitution - Missense |
c.1061C>A; p.S354Y; 12:52898820-52898820 |
prostate | adenoma | Substitution - Missense |
c.463G>T; p.G155C; 12:52901934-52901934 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1407T>C; p.R469R; 12:52897473-52897473 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.420C>T; p.F140F; 12:52901977-52901977 |
skin | malignant_melanoma | Substitution - coding silent |
c.420C>T; p.F140F; 12:52901977-52901977 |
skin | malignant_melanoma | Substitution - coding silent |
c.1106G>A; p.R369Q; 12:52898775-52898775 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.681A>G; p.L227L; 12:52900597-52900597 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.681A>G; p.L227L; 12:52900597-52900597 |
thyroid | other; neoplasm | Substitution - coding silent |
c.91T>G; p.S31A; 12:52904891-52904891 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.91T>G; p.S31A; 12:52904891-52904891 |
prostate | carcinoma | Substitution - Missense |
c.300_302delCAA; p.N100delN; 12:52904680-52904682 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.300_302delCAA; p.N100delN; 12:52904680-52904682 |
stomach | adenocarcinoma | Deletion - In frame |
c.627G>C; p.E209D; 12:52900651-52900651 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.997G>A; p.A333T; 12:52898884-52898884 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1214G>C; p.G405A; 12:52898508-52898508 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1126G>T; p.E376*; 12:52898755-52898755 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1074C>T; p.A358A; 12:52898807-52898807 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.755G>A; p.R252H; 12:52900001-52900001 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.755G>A; p.R252H; 12:52900001-52900001 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1425T>C; p.S475S; 12:52897455-52897455 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.52delC; p.R18fs*56; 12:52904930-52904930 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1425T>C; p.S475S; 12:52897455-52897455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1425T>C; p.S475S; 12:52897455-52897455 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1425T>C; p.S475S; 12:52897455-52897455 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1398C>T; p.I466I; 12:52897482-52897482 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1398C>T; p.I466I; 12:52897482-52897482 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1398C>T; p.I466I; 12:52897482-52897482 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1063G>A; p.E355K; 12:52898818-52898818 |
skin | malignant_melanoma | Substitution - Missense |
c.230T>G; p.V77G; 12:52904752-52904752 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1445C>T; p.P482L; 12:52897435-52897435 |
skin | malignant_melanoma | Substitution - Missense |
c.657C>T; p.D219D; 12:52900621-52900621 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.219G>A; p.L73L; 12:52904763-52904763 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.654C>T; p.T218T; 12:52900624-52900624 |
skin | malignant_melanoma | Substitution - coding silent |
c.44C>T; p.S15F; 12:52904938-52904938 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1207G>A; p.E403K; 12:52898515-52898515 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1239G>A; p.T413T; 12:52898483-52898483 |
skin | malignant_melanoma | Substitution - coding silent |
c.658G>A; p.E220K; 12:52900620-52900620 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1300G>A; p.G434S; 12:52897580-52897580 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1014C>T; p.A338A; 12:52898867-52898867 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |