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

Basic Information

Gene ID

5378

Name

PMS1

Synonymous

HNPCC3|PMSL1|hPMS1;PMS1 postmeiotic segregation increased 1 (S. cerevisiae);PMS1;PMS1 postmeiotic segregation increased 1 (S. cerevisiae)

Definition

DNA mismatch repair protein PMS1|PMS1 protein homolog 1|human homolog of yeast mutL|mismatch repair gene PMSL1|rhabdomyosarcoma antigen MU-RMS-40.10B|rhabdomyosarcoma antigen MU-RMS-40.10E

Position

2q31-q33|2q31.1

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.640C>T; 2:190416992-190416992

y; ovaryserous_carcinoma; carcinoma

Indel

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Mutation (Type; AA; Chr)

Site

Histology

Deletion - Frameshift; c.1982delA; 2:190436839-190436839

kidneyclear_cell_renal_cell_carcinoma; carcinoma

Other Mutation

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There is no record for PMS1



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