Varaico: Literature-Extracted Genetic Variants

TP63

1,521 papers

RefSeq Summary

This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an o...

Pfam Domains

P53aa 167–359UCSCP53 DNA-binding domain

P53_tetrameraa 391–431UCSCP53 tetramerisation motif

SAM_2aa 541–605UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

tumor protein p63

HGNC Previous Symbols

TP73L; TP53L; TP53CP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003722.5

p.E197Q

c.589G>C

Surrounding Variants

1 paper

NM_003722.5

p.K199_I205delFs

c.595_613del19

1 paper

NM_003722.5

p.Y194*

c.582T>A

1 paper

NM_003722.5

p.Y194*

c.582T>G

5 papers

NM_003722.5

p.K200E

c.598A>G

1 paper

NM_003722.5

p.Y194insFs

c.580_581insT

7 papers

NM_003722.5

p.T193_Y194Splc

c.580-2A>C

2 papers

NM_003722.5

p.T193_Y194Splc

c.580-2A>G

1 paper

NM_003722.5

p.L201V

c.601C>G

1 paper

NM_003722.5

p.L201F

c.601C>T

2 papers

NM_003722.5

p.L201P

c.602T>C

1 paper

NM_003722.5

p.L201L

c.603C>A

1 paper

NM_003722.5

p.Y202_C203insT

c.604_608ins3