Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E346Q

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
4 papers
NM_000546.6
p.E346Q
c.1036G>C
Surrounding Variants
41 papers
NM_000546.6
p.E346*
c.1036G>T
5 papers
NM_000546.6
p.N345insFs
c.1035dupT
1 paper
NM_000546.6
p.E346insFs
c.1036_1037ins13
1 paper
NM_000546.6
p.E346_A347ins7
c.1036_1040ins21
21 papers
NM_000546.6
p.E346K
c.1036G>A
1 paper
NM_000546.6
p.N345del1
c.1033_1034delATT
1 paper
NM_000546.6
p.R342_N345del4
c.1024_1034del12
5 papers
NM_000546.6
p.E346fs
c.1036_1037fs
1 paper
NM_000546.6
p.N345_E346insFs
c.1035_1036insCT
6 papers
NM_000546.6
p.N345fs
c.1033_1034fs
36 papers
NM_000546.6
p.N345K
c.1035T>G
38 papers
NM_000546.6
p.N345K
c.1035T>A
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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."