Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C124R

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
41 papers
NM_000546.6
p.C124R
c.370T>C
Surrounding Variants
1 paper
NM_000546.6
p.K120_T123insFs
c.360_369dup10
1 paper
NM_000546.6
p.C124insFs
c.370_371insG
1 paper
NM_000546.6
p.C124insFs
c.370_371ins10
19 papers
NM_000546.6
p.C124G
c.370T>G
34 papers
NM_000546.6
p.C124S
c.370T>A
1 paper
NM_000546.6
p.T123_C124delins
c.369_370delinsGG
1 paper
NM_000546.6
p.T123delFs
c.368_369delAG
28 papers
NM_000546.6
p.C124fs
c.370_371fs
1 paper
NM_000546.6
p.V122_T123insFs
c.364_368dup5
6 papers
NM_000546.6
p.T123fs
c.367_368fs
1 paper
NM_000546.6
p.T123T
c.369T>G
1 paper
NM_000546.6
p.T123T
c.369T>C
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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."