Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.M120K

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
P53aa 167–359UCSCP53 DNA-binding domain
P53_tetrameraa 391–431UCSCP53 tetramerisation motif
P53_tetrameraa 391–431UCSCP53 tetramerisation motif
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.M120K
c.359T>A
Surrounding Variants
1 paper
NM_003722.5
p.M120L
c.358A>C
1 paper
NM_003722.5
p.M120delFs
c.359delT
3 papers
NM_003722.5
p.M120I
c.360G>A
1 paper
NM_003722.5
p.D121G
c.362A>G
1 paper
NM_003722.5
p.S119G
c.355A>G
1 paper
NM_003722.5
p.N118T
c.353A>C
1 paper
NM_003722.5
p.N118I
c.353A>T
1 paper
NM_003722.5
p.Q123E
c.367C>G
2 papers
NM_003722.5
p.Q123insFs
c.368_369insC
1 paper
NM_003722.5
p.I124V
c.370A>G
1 paper
NM_003722.5
p.I124I
c.372T>A
1 paper
NM_003722.5
p.G115G
c.345G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."