Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.E399K

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.E399K
c.1195G>A
Surrounding Variants
1 paper
NM_003722.5
p.E399G
c.1196A>G
1 paper
NM_003722.5
p.E399D
c.1197A>C
1 paper
NM_003722.5
p.E399D
c.1197A>T
1 paper
NM_003722.5
p.D398N
c.1192G>A
1 paper
NM_003722.5
p.D397N
c.1189G>A
1 paper
NM_003722.5
p.P396_D397insFs
c.1188_1189insCC
24 papers
NM_003722.5
p.P396P
c.1188A>C
1 paper
NM_003722.5
p.D397delFs
c.1189delG
1 paper
NM_003722.5
p.Y402H
c.1204T>C
1 paper
NM_003722.5
p.R394K
c.1181G>A
4 papers
NM_003722.5
p.R393Q
c.1178G>A
1 paper
NM_003722.5
p.K391N
c.1173G>C
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