Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R280del1

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.R280del1
c.838_839delTCT
Surrounding Variants
119 papers
NM_000546.6
p.D281Y
c.841G>T
1 paper
NM_000546.6
p.D281_R282insC
c.841_845ins3
1 paper
NM_000546.6
p.R280_D281insFs
c.840_841insAA
143 papers
NM_000546.6
p.D281H
c.841G>C
153 papers
NM_000546.6
p.D281N
c.841G>A
11 papers
NM_000546.6
p.D281fs
c.841_842fs
120 papers
NM_000546.6
p.R280S
c.840A>T
76 papers
NM_001126115.2
p.D149V
c.446A>T
NM_000546.6
p.D281V
c.842A>T
194 papers
NM_000546.6
p.D281G
c.842A>G
116 papers
NM_000546.6
p.R280S
c.840A>C
36 papers
NM_000546.6
p.D281A
c.842A>C
3 papers
NM_000546.6
p.D281insFs
c.842_843insG
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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."