Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.S180ins1

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
2 papers
NM_003722.5
p.S180ins1
c.539_540insTTC
Surrounding Variants
4 papers
NM_003722.5
p.S180T
c.538T>A
2 papers
NM_003722.5
p.S180F
c.539C>T
2 papers
NM_003722.5
p.V179M
c.535G>A
1 paper
NM_003722.5
p.V179L
c.535G>C
1 paper
NM_003722.5
p.V179L
c.535G>T
1 paper
NM_003722.5
p.F181L
c.541T>C
1 paper
NM_003722.5
p.D178Y
c.532G>T
1 paper
NM_003722.5
p.F177F
c.531C>T
1 paper
NM_003722.5
p.S176R
c.528T>A
1 paper
NM_003722.5
p.Q183R
c.548A>G
1 paper
NM_003722.5
p.H175L
c.524A>T
1 paper
NM_003722.5
p.H175_S176ins15
c.523_527ins45
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