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Pedican
Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

7172

Name

TPMT

Synonymous

-;thiopurine S-methyltransferase;TPMT;thiopurine S-methyltransferase

Definition

S-adenosyl-L-methionine:thiopurine S-methyltransferase

Position

6p22.3

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for TPMT

PCGP somatic mutation   [Top]

There is no record for TPMT

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.296T>G; p.F99C;

large_intestine; coloncarcinoma; adenocarcinoma

c.141-10delt; p.?;

livercarcinoma

c.106G>A; p.G36S;

oesophaguscarcinoma; adenocarcinoma

c.280C>T; p.L94F;

oesophaguscarcinoma; adenocarcinoma

c.205C>G; p.L69V;

livercarcinoma

c.643C>T; p.R215C;

large_intestine; coloncarcinoma; adenocarcinoma

c.300_301insT; p.T101fs*22;

large_intestine; coloncarcinoma; adenocarcinoma

c.105C>T; p.N35N;

large_intestine; coloncarcinoma; adenocarcinoma

c.412C>A; p.L138I;

large_intestine; rectumcarcinoma; adenocarcinoma

c.292G>T; p.E98*;

endometriumcarcinoma; endometrioid_carcinoma

c.356A>C; p.K119T;

endometriumcarcinoma; endometrioid_carcinoma

c.528G>T; p.K176N;

endometriumcarcinoma; endometrioid_carcinoma

c.371C>A; p.S124Y;

large_intestine; coloncarcinoma; adenocarcinoma

c.520C>T; p.L174L;

large_intestine; coloncarcinoma; adenocarcinoma

c.618G>A; p.R206R;

breastcarcinoma

c.89A>G; p.Q30R;

large_intestine; rectumcarcinoma; adenocarcinoma

c.659T>C; p.V220A;

skinmalignant_melanoma


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