Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R249_P250delins

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
2 papers
NM_000546.6
p.R249_P250delins
c.747_748delinsTT
Surrounding Variants
32 papers
NM_000546.6
p.P250S
c.748C>T
8 papers
NM_000546.6
p.P250A
c.748C>G
1 paper
NM_000546.6
p.R249insFs
c.746_747dupGG
1 paper
NM_000546.6
p.P250ins2
c.748_749ins6
9 papers
NM_000546.6
p.P250T
c.748C>A
9 papers
NM_000546.6
p.R249delFs
c.747delC
1 paper
NM_000546.6
p.R249_P250delins
c.747_748delinsTA
1 paper
NM_000546.6
p.R249_P250delins
c.746_748delinsAAA
4 papers
NM_000546.6
p.R249del1
c.745_746delCCT
4 papers
NM_000546.6
p.N247_R249del0
c.739_747del9
4 papers
NM_000546.6
p.P250fs
c.748_749fs
1107 papers
NM_000546.6
p.R249S
c.747G>T
NM_001126115.2
p.R117S
c.351G>T
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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."