Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D49E

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
10 papers
NM_000546.6
p.D49E
c.147T>A
Surrounding Variants
2 papers
NM_000546.6
p.D49_I50insFs
c.147_148insC
11 papers
NM_000546.6
p.D49fs
c.145_146fs
11 papers
NM_000546.6
p.D49E
c.147T>G
3 papers
NM_000546.6
p.D49D
c.147T>C
3 papers
NM_000546.6
p.D49delFs
c.146delT
2 papers
NM_000546.6
p.D49delFs
c.145_146delTC
1 paper
NM_000546.6
p.D48_D49delFs
c.142_146del5
8 papers
NM_000546.6
p.I50fs
c.148_149fs
57 papers
NM_000546.6
p.D49V
c.146A>T
28 papers
NM_000546.6
p.I50F
c.148A>T
15 papers
NM_000546.6
p.D49G
c.146A>G
10 papers
NM_000546.6
p.I50V
c.148A>G
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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."