Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D48delFs

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.D48delFs
c.144delG
Surrounding Variants
8 papers
NM_000546.6
p.D49fs
c.145_146fs
13 papers
NM_000546.6
p.D49Y
c.145G>T
62 papers
NM_000546.6
p.D49H
c.145G>C
32 papers
NM_000546.6
p.D49N
c.145G>A
1 paper
NM_000546.6
p.S46_D48del0
c.138_143del6
1 paper
NM_000546.6
p.L45_D48del4
c.133_143del12
5 papers
NM_000546.6
p.D48D
c.144C>T
15 papers
NM_000546.6
p.D48E
c.144C>G
1 paper
NM_000546.6
p.D48_D49insFs
c.144_145ins5
20 papers
NM_000546.6
p.D48fs
c.142_143fs
14 papers
NM_000546.6
p.D48E
c.144C>A
1 paper
NM_000546.6
p.D48delins
c.143_144delinsCT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."