Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.R318C

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
9 papers
NM_003722.5
p.R318C
c.952C>T
Surrounding Variants
2 papers
NM_003722.5
p.R318S
c.952C>A
14 papers
NM_003722.5
p.R318H
c.953G>A
1 paper
NM_003722.5
p.N317S
c.950A>G
3 papers
NM_003722.5
p.R319S
c.955C>A
15 papers
NM_003722.5
p.R319C
c.955C>T
22 papers
NM_003722.5
p.R319H
c.956G>A
NM_001114980.2
p.R225H
c.674G>A
2 papers
NM_003722.5
p.M316I
c.948G>A
2 papers
NM_003722.5
p.M316I
c.948G>C
6 papers
NM_003722.5
p.R319L
c.956G>T
NM_001114980.2
p.R225L
c.674G>T
2 papers
NM_003722.5
p.M316I
c.948G>T
1 paper
NM_003722.5
p.M316L
c.946A>C
1 paper
NM_003722.5
p.M316V
c.946A>G
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