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.K375*

c.1123A>T

Surrounding Variants

1 paper

NM_003722.5

p.K375R

c.1124A>G

2 papers

NM_001329146.2

p.T195M

c.584C>T

NM_003722.5

p.T374M

c.1121C>T

2 papers

NM_003722.5

p.K375N

c.1125G>C

2 papers

NM_003722.5

p.K375N

c.1125G>T

3 papers

NM_003722.5

p.R376C

c.1126C>T

2 papers

NM_003722.5

p.R376H

c.1127G>A

1 paper

NM_001114980.2

p.P283S

c.847C>T

1 paper

NM_003722.5

p.P377L

c.1130C>T

3 papers

NM_003722.5

p.P377Splc

c.1129+1G>A

1 paper

NM_003722.5

p.D372delFs

c.1116delT

1 paper

NM_003722.5

p.D372N

c.1114G>A

2 papers

NM_003722.5

p.D372H

c.1114G>C