Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S46S

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
1 paper
NM_000546.6
p.S46S
c.138C>G
Surrounding Variants
1 paper
NM_000546.6
p.S46S
c.138C>T
6 papers
NM_000546.6
p.S46fs
c.136_137fs
2 papers
NM_000546.6
p.S46S
c.138C>A
2 papers
NM_000546.6
p.S46delFs
c.136_137delGA
17 papers
NM_000546.6
p.P47fs
c.139_140fs
185 papers
NM_000546.6
p.P47S
c.139C>T
NM_001126118.2
p.P8S
c.22C>T
36 papers
NM_000546.6
p.S46F
c.137C>T
NM_001126118.2
p.S7F
c.20C>T
1 paper
NM_000546.6
p.P47Fs
c.139delinsTTFs
1 paper
NM_000546.6
p.S46Fs
c.137delinsGTFs
12 papers
NM_000546.6
p.P47A
c.139C>G
8 papers
NM_000546.6
p.S46C
c.137C>G
15 papers
NM_000546.6
p.P47T
c.139C>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."