Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S99fs

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
11 papers
NM_000546.6
p.S99fs
c.295_296fs
Surrounding Variants
1 paper
NM_000546.6
p.S99S
c.297C>T
11 papers
NM_000546.6
p.Q100fs
c.298_299fs
89 papers
NM_000546.6
p.Q100*
c.298C>T
NM_001126118.2
p.Q61*
c.181C>T
29 papers
NM_000546.6
p.S99F
c.296C>T
9 papers
NM_000546.6
p.S99C
c.296C>G
6 papers
NM_000546.6
p.Q100E
c.298C>G
1 paper
NM_000546.6
p.S99insFs
c.295_296ins41
10 papers
NM_000546.6
p.S99Y
c.296C>A
9 papers
NM_000546.6
p.Q100K
c.298C>A
1 paper
NM_000546.6
p.S99Fs
c.295_296delinsGFs
4 papers
NM_000546.6
p.S99delFs
c.295delA
2 papers
NM_000546.6
p.S99_Q100delins
c.297_298delinsTT
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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."