Cancer metastasis database

Annotation category 5

Gene information

Gene ID 7276
Symbol

TTR

Synonymous

CTS|CTS1|HEL111|HsT2651|PALB|TBPA

Full name

transthyretin

Gene description

ATTR|carpal tunnel syndrome 1|epididymis luminal protein 111|prealbumin, amyloidosis type I|thyroxine-binding prealbumin

Cytoband

18q12.1

Gene type

protein-coding

Synonymous

MIM:176300; HGNC:HGNC:12405; Ensembl:ENSG00000118271; HPRD:01447; Vega:OTTHUMG00000131984

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.235A>G; p.T79A; 18:31595154-31595154

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.368G>A; p.R123H; 18:31598599-31598599

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.405C>T; p.S135S; 18:31598636-31598636

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.362G>C; p.G121A; 18:31598593-31598593

 soft_tissue; striated_musclerhabdomyosarcoma; alveolarSubstitution - Missense

c.155T>A; p.V52E; 18:31592981-31592981

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.407A>G; p.Y136C; 18:31598638-31598638

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.186G>T; p.E62D; 18:31593012-31593012

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.237A>G; p.T79T; 18:31595156-31595156

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.235A>T; p.T79S; 18:31595154-31595154

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.327G>T; p.E109D; 18:31595246-31595246

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.367C>A; p.R123S; 18:31598598-31598598

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.77G>A; p.G26D; 18:31592903-31592903

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.367C>T; p.R123C; 18:31598598-31598598

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.205A>G; p.T69A; 18:31595124-31595124

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.406T>C; p.Y136H; 18:31598637-31598637

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.99G>A; p.M33I; 18:31592925-31592925

 central_nervous_system; braingliomaSubstitution - Missense

c.122G>A; p.R41Q; 18:31592948-31592948

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.57G>T; p.E19D; 18:31591959-31591959

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.236C>T; p.T79I; 18:31595155-31595155

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.280G>T; p.D94Y; 18:31595199-31595199

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.404C>T; p.S135F; 18:31598635-31598635

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.417G>A; p.T139T; 18:31598648-31598648

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.53C>T; p.S18F; 18:31591955-31591955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.385G>A; p.A129T; 18:31598616-31598616

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.370C>T; p.R124C; 18:31598601-31598601

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.334G>T; p.E112*; 18:31595253-31595253

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.38G>A; p.G13E; 18:31591940-31591940

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.120C>T; p.V40V; 18:31592946-31592946

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.5C>G; p.A2G; 18:31591907-31591907

 livercarcinomaSubstitution - Missense

c.423C>T; p.V141V; 18:31598654-31598654

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.423C>T; p.V141V; 18:31598654-31598654

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.25C>G; p.L9V; 18:31591927-31591927

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.216T>C; p.S72S; 18:31595135-31595135

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.308G>C; p.G103A; 18:31595227-31595227

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.239C>T; p.T80I; 18:31595158-31595158

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense