Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E346D

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
7 papers
NM_000546.6
p.E346D
c.1038G>T
Surrounding Variants
2 papers
NM_000546.6
p.E346fs
c.1036_1037fs
1 paper
NM_000546.6
p.N345_E346insFs
c.1034_1037dup4
6 papers
NM_000546.6
p.E346D
c.1038G>C
6 papers
NM_000546.6
p.E346E
c.1038G>A
1 paper
NM_000546.6
p.E346delFs
c.1037delT
1 paper
NM_000546.6
p.N345_E346delFs
c.1034_1037del4
8 papers
NM_000546.6
p.A347S
c.1039G>T
1 paper
NM_000546.6
p.E343_E346insFs
c.1028_1038dup11
14 papers
NM_000546.6
p.A347P
c.1039G>C
43 papers
NM_000546.6
p.A347T
c.1039G>A
NM_001276697.3
p.A188T
c.562G>A
2 papers
NM_000546.6
p.E346delFs
c.1037_1038delCT
1 paper
NM_000546.6
p.R342_E346del5
c.1024_1037del15
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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."