Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.K120E

TP53

19,071 papers

RefSeq Summary

This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expr...

Pfam Domains

P53_TADaa 6–30UCSCP53 transactivation motif
TAD2aa 35–59UCSCTransactivation domain 2
P53aa 99–289UCSCP53 DNA-binding domain
P53_tetrameraa 319–358UCSCP53 tetramerisation motif

Gene Aliases

HGNC Name

tumor protein p53

HGNC Alias Symbols

p53; LFS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
77 papers
NM_000546.6
p.K120E
c.358A>G
Surrounding Variants
9 papers
NM_000546.6
p.K120fs
c.358_359fs
25 papers
NM_000546.6
p.K120*
c.358A>T
20 papers
NM_000546.6
p.K120Q
c.358A>C
1 paper
NM_000546.6
p.A119_K120insFs
c.357_358insC
1 paper
NM_000546.6
p.K120insFs
c.358_359ins4
5 papers
NM_000546.6
p.A119delFs
c.357delG
1 paper
NM_000546.6
p.S116_A119delFs
c.348_357del10
1 paper
NM_000546.6
p.A119A
c.357C>G
1 paper
NM_000546.6
p.H115_A119insFs
c.344_356dup13
4 papers
NM_000546.6
p.A119fs
c.355_356fs
1 paper
NM_000546.6
p.A119delins
c.356_357delinsTT
1 paper
NM_000546.6
p.A119delins
c.355_356delinsGC
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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."