Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.V217L

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
18 papers
NM_000546.6
p.V217L
c.649G>T
Surrounding Variants
9 papers
NM_000546.6
p.V217L
c.649G>C
34 papers
NM_000546.6
p.V217M
c.649G>A
8 papers
NM_000546.6
p.V217fs
c.649_650fs
4 papers
NM_000546.6
p.V216delFs
c.647_648delCA
2 papers
NM_000546.6
p.S215_V216del2
c.643_647del6
1 paper
NM_000546.6
p.V216_V217insFs
c.648_649dupGG
29 papers
NM_000546.6
p.V217G
c.650T>G
7 papers
NM_000546.6
p.V217A
c.650T>C
6 papers
NM_000546.6
p.V217E
c.650T>A
5 papers
NM_000546.6
p.V217delFs
c.649delC
1 paper
NM_000546.6
p.S215_V217del0
c.644_649del6
4 papers
NM_000546.6
p.V216V
c.648G>T
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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."