Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D393E

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.D393E
c.1179C>G
Surrounding Variants
1 paper
NM_000546.6
p.D393_*394insFs
c.1179_1180insT
9 papers
NM_000546.6
p.D393fs
c.1177_1178fs
3 papers
NM_000546.6
p.D393E
c.1179C>A
1 paper
NM_000546.6
p.D393insFs
c.1179dupC
1 paper
NM_000546.6
p.*394G
c.1180T>G
2 papers
NM_000546.6
p.*394R
c.1180T>C
1 paper
NM_000546.6
p.*394R
c.1180T>A
1 paper
NM_000546.6
p.S392_D393delFs
c.1176_1179del4
1 paper
NM_000546.6
p.T387_D393delFs
c.1161_1179del19
2 papers
NM_000546.6
p.D393V
c.1178A>T
4 papers
NM_000546.6
p.D393G
c.1178A>G
2 papers
NM_000546.6
p.D393A
c.1178A>C
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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."