Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E224_V225insA

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
3 papers
NM_000546.6
p.E224_V225insA
c.670_674ins3
Surrounding Variants
43 papers
NM_000546.6
p.E224*
c.670G>T
6 papers
NM_000546.6
p.E224Q
c.670G>C
32 papers
NM_000546.6
p.E224K
c.670G>A
1 paper
NM_000546.6
p.P223delFs
c.669delA
1 paper
NM_000546.6
p.P223delFs
c.668_669delAG
1 paper
NM_000546.6
p.P222_E224Fs
c.665_670delinsTFs
1 paper
NM_000546.6
p.Y220_P223delFs
c.659_669del11
1 paper
NM_000546.6
p.P219_P223del5
c.655_668del15
1 paper
NM_000546.6
p.V218_P223delFs
c.653_669del17
1 paper
NM_000546.6
p.F212_P223del12
c.634_668del36
3 papers
NM_000546.6
p.E224fs
c.670_671fs
1 paper
NM_000546.6
p.P223insFs
c.668dupC
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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."