Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.H138P

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.H138P
c.413A>C
Surrounding Variants
1 paper
NM_003722.5
p.H138H
c.414C>T
3 papers
NM_003722.5
p.A139T
c.415G>A
4 papers
NM_003722.5
p.A139V
c.416C>T
1 paper
NM_003722.5
p.Q140_S142delFs
c.420_426del7
1 paper
NM_003722.5
p.T136A
c.406A>G
1 paper
NM_003722.5
p.N141D
c.421A>G
1 paper
NM_003722.5
p.N135K
c.405C>A
1 paper
NM_003722.5
p.T136delFs
c.406delA
1 paper
NM_003722.5
p.N141K
c.423C>G
2 papers
NM_003722.5
p.V143L
c.427G>C
1 paper
NM_003722.5
p.P133L
c.398C>T
9 papers
NM_003722.5
p.V143A
c.428T>C
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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."