Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L252P

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
67 papers
NM_000546.6
p.L252P
c.755T>C
Surrounding Variants
1 paper
NM_000546.6
p.L252insFs
c.754dupC
1 paper
NM_000546.6
p.P250_L252insFs
c.750_754dup5
4 papers
NM_000546.6
p.L252R
c.755T>G
7 papers
NM_000546.6
p.L252H
c.755T>A
11 papers
NM_000546.6
p.L252delFs
c.754delG
1 paper
NM_000546.6
p.P250_L252del0
c.749_754del6
23 papers
NM_000546.6
p.L252F
c.754C>T
NM_001126118.2
p.L213F
c.637C>T
3 papers
NM_000546.6
p.L252V
c.754C>G
1 paper
NM_000546.6
p.L252insFs
c.755dupT
1 paper
NM_000546.6
p.L252insFs
c.754_755insG
11 papers
NM_000546.6
p.L252fs
c.754_755fs
1 paper
NM_000546.6
p.L252_T253insL
c.754_758ins3
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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."