Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D208E

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
14 papers
NM_000546.6
p.D208E
c.624C>G
Surrounding Variants
3 papers
NM_000546.6
p.D208D
c.624C>T
1 paper
NM_000546.6
p.D208_R209insFs
c.624_625insTC
6 papers
NM_000546.6
p.D208fs
c.622_623fs
1 paper
NM_000546.6
p.D208insFs
c.623dupA
1 paper
NM_000546.6
p.D208insFs
c.622_623ins4
14 papers
NM_000546.6
p.D208E
c.624C>A
1 paper
NM_000546.6
p.D207_D208del1
c.621_623delTCA
1 paper
NM_000546.6
p.E204_D208del0
c.612_623del12
65 papers
NM_000546.6
p.D208V
c.623A>T
54 papers
NM_000546.6
p.R209*
c.625A>T
36 papers
NM_000546.6
p.D208G
c.623A>G
9 papers
NM_000546.6
p.R209G
c.625A>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."