Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

79577

Name

CDC73

Synonymous

C1orf28|HPTJT|HRPT2|HYX;cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae);CDC73;cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)

Definition

cell division cycle protein 73 homolog|hyperparathyroidism 2 protein|parafibromin

Position

1q25

Gene Type

protein-coding

Gene Mutation:

Substitution
Insertion & Deletion
Other Mutation

Substitution

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Mutation (Type; AA; Chr)

Site

Histology

Substitution - coding silent; c.690A>G;

y; upper_aerodigestive_tract; mouthsquamous_cell_carcinoma; carcinoma

Indel

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Mutation (Type; AA; Chr)

Site

Histology

Deletion - In frame; c.13_30del18; 1:191357966-191357983

parathyroidcarcinoma

Deletion - Frameshift; c.85delG; 1:191358038-191358038

parathyroidcarcinoma

Deletion - Frameshift; c.732delT; 1:191383622-191383622

parathyroidcarcinoma

Deletion - Frameshift; c.82_85delGGGG; 1:191358035-191358038

parathyroidcarcinoma

Deletion - Frameshift; c.1230delC; 1:191468821-191468821

parathyroidcarcinoma

Deletion - Frameshift; c.16delA; 1:191357969-191357969

parathyroidcarcinoma

Deletion - Frameshift; c.165delC; 1:191360898-191360898

parathyroidcarcinoma

Deletion - Frameshift; c.61_64delAAGG; 1:191358014-191358017

parathyroidcarcinoma

Deletion - Frameshift; c.39delC; 1:191357992-191357992

parathyroidcarcinoma

Deletion - Frameshift; c.60_69del10; 1:191358013-191358022

parathyroidcarcinoma

Deletion - Frameshift; c.686_689delGAGT; 1:191377776-191377779

parathyroidcarcinoma

Deletion - Frameshift; c.746delT; 1:191383636-191383636

parathyroidcarcinoma

Deletion - Frameshift; c.53delT; 1:191358006-191358006

parathyroidadenoma

Deletion - Frameshift; c.32_32delA; 1:191357985-191357985

parathyroidadenoma

Deletion - Frameshift; c.70_73delGAAG; 1:191358023-191358026

parathyroidadenoma

Deletion - Frameshift; c.76delA; 1:191358029-191358029

parathyroidcarcinoma

Deletion - Frameshift; c.165delC; 1:191360898-191360898

parathyroidcarcinoma

Deletion - Frameshift; c.95_102delGGCCCAAG; 1:191358048-191358055

parathyroidadenoma

Deletion - Frameshift; c.34_37delAACA; 1:191357987-191357990

parathyroidcarcinoma

Deletion - Frameshift; c.85delG; 1:191358038-191358038

parathyroidcarcinoma

Other Mutation

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Mutation (Type; AA; Chr)

Site

Histology

Complex - frameshift; c.23_26TGCG>GTG; 1:191357976-191357979

parathyroidcarcinoma

Complex - frameshift; c.23_26TGCG>GTG; 1:191357976-191357979

parathyroidcarcinoma


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