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.A223P

c.667G>C

Surrounding Variants

1 paper

NM_003722.5

p.A223_A227del5

c.667_680del15

2 papers

NM_003722.5

p.V224I

c.670G>A

1 paper

NM_003722.5

p.V224_I225insC

c.670_674ins3

1 paper

NM_003722.5

p.Q221_G222insFs

c.663_664insTT

1 paper

NM_003722.5

p.Q221delFs

c.663delG

1 paper

NM_003722.5

p.I225F

c.673A>T

1 paper

NM_003722.5

p.Q221K

c.661C>A

1 paper

NM_003722.5

p.Q221E

c.661C>G

1 paper

NM_003722.5

p.I225T

c.674T>C

1 paper

NM_003722.5

p.R226G

c.676C>G

3 papers

NM_003722.5

p.R226C

c.676C>T

1 paper

NM_003722.5

p.P220S

c.658C>T