Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D148E

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
22 papers
NM_000546.6
p.D148E
c.444T>G
Surrounding Variants
1 paper
NM_000546.6
p.D148_S149insFs
c.444_445insG
1 paper
NM_000546.6
p.D148_S149insFs
c.444_445insC
4 papers
NM_000546.6
p.D148fs
c.442_443fs
2 papers
NM_000546.6
p.D148insFs
c.443dupA
1 paper
NM_000546.6
p.D148D
c.444T>C
22 papers
NM_000546.6
p.D148E
c.444T>A
1 paper
NM_000546.6
p.D148delFs
c.443delT
1 paper
NM_000546.6
p.D148delFs
c.442_443delTC
1 paper
NM_000546.6
p.D148delins
c.442_444delinsATG
1 paper
NM_000546.6
p.D148delins
c.442_444delinsTGG
1 paper
NM_000546.6
p.D148delins
c.442_444delinsTAG
2 papers
NM_000546.6
p.D148delins
c.442_444delinsTGA
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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."