Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q144E

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
8 papers
NM_000546.6
p.Q144E
c.430C>G
Surrounding Variants
10 papers
NM_000546.6
p.Q144fs
c.430_431fs
117 papers
NM_000546.6
p.Q144*
c.430C>T
1 paper
NM_000546.6
p.Q144Fs
c.430delinsTTFs
1 paper
NM_000546.6
p.Q144insFs
c.430_431insT
1 paper
NM_000546.6
p.V143insFs
c.429dupG
1 paper
NM_000546.6
p.V143insFs
c.428_429dupTG
1 paper
NM_000546.6
p.Q144_L145ins5
c.430_434ins15
10 papers
NM_000546.6
p.Q144K
c.430C>A
2 papers
NM_000546.6
p.V143_Q144delins
c.429_430delinsTT
1 paper
NM_000546.6
p.V143delFs
c.429delC
2 papers
NM_000546.6
p.V143delFs
c.428_429delCA
1 paper
NM_000546.6
p.V143del1
c.427_428delCAC
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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."