Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.C347S

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
6 papers
NM_003722.5
p.C347S
c.1039T>A
Surrounding Variants
1 paper
NM_003722.5
p.C347R
c.1039T>C
4 papers
NM_003722.5
p.C347Y
c.1040G>A
5 papers
NM_003722.5
p.C347S
c.1040G>C
8 papers
NM_003722.5
p.C347F
c.1040G>T
3 papers
NM_003722.5
p.A346D
c.1037C>A
10 papers
NM_003722.5
p.A346G
c.1037C>G
1 paper
NM_003722.5
p.C347W
c.1041C>G
4 papers
NM_003722.5
p.P348S
c.1042C>T
1 paper
NM_003722.5
p.A346S
c.1036G>T
1 paper
NM_003722.5
p.G349del1
c.1045_1046delGGA
1 paper
NM_003722.5
p.C345W
c.1035T>G
1 paper
NM_003722.5
p.G349R
c.1045G>A
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