Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.M316L

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.M316L
c.946A>C
Surrounding Variants
1 paper
NM_003722.5
p.M316V
c.946A>G
1 paper
NM_003722.5
p.M316L
c.946A>T
2 papers
NM_003722.5
p.M316I
c.948G>A
1 paper
NM_003722.5
p.G315E
c.944G>A
2 papers
NM_003722.5
p.M316I
c.948G>C
2 papers
NM_003722.5
p.M316I
c.948G>T
1 paper
NM_003722.5
p.G315_M316insA
c.943_947ins3
3 papers
NM_003722.5
p.G315W
c.943G>T
1 paper
NM_003722.5
p.N317S
c.950A>G
1 paper
NM_003722.5
p.G315_R318del4
c.943_953del12
2 papers
NM_003722.5
p.G314E
c.941G>A
2 papers
NM_003722.5
p.R318S
c.952C>A
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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."