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.A273V

c.818C>T

Surrounding Variants

2 papers

NM_003722.5

p.A273A

c.819C>T

5 papers

NM_003722.5

p.A273_Q274insFs

c.819_820dupCC

1 paper

NM_003722.5

p.A273S

c.817G>T

3 papers

NM_003722.5

p.Q274fs

c.820_821fs

1 paper

NM_003722.5

p.Y275_D278ins1

c.823_834dup12

1 paper

NM_003722.5

p.S271N

c.812G>A

5 papers

NM_003722.5

p.S271T

c.812G>C

1 paper

NM_003722.5

p.V276L

c.826G>T

1 paper

NM_003722.5

p.V276A

c.827T>C

2 papers

NM_003722.5

p.E277delFs

c.829delG

2 papers

NM_003722.5

p.G269E

c.806G>A

1 paper

NM_003722.5

p.G269V

c.806G>T