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

3 papers

NM_003722.5

p.V241M

c.721G>A

Surrounding Variants

1 paper

NM_003722.5

p.V241A

c.722T>C

1 paper

NM_003722.5

p.K242E

c.724A>G

1 paper

NM_003722.5

p.K242R

c.725A>G

1 paper

NM_001114981.2

p.K148K

c.444G>A

1 paper

NM_003722.5

p.R243_C244insA

c.727_731ins3

32 papers

NM_003722.5

p.R243W

c.727C>T

20 papers

NM_003722.5

p.R243Q

c.728G>A

4 papers

NM_003722.5

p.R243L

c.728G>T

1 paper

NM_003722.5

p.T238M

c.713C>T

1 paper

NM_003722.5

p.C244S

c.730T>A

1 paper

NM_003722.5

p.C244delFs

c.731delG

1 paper

NM_003722.5

p.C244Y

c.731G>A