Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q100delFs

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
1 paper
NM_000546.6
p.Q100delFs
c.300delC
Surrounding Variants
18 papers
NM_000546.6
p.K101*
c.301A>T
11 papers
NM_000546.6
p.K101E
c.301A>G
11 papers
NM_000546.6
p.K101Q
c.301A>C
1 paper
NM_000546.6
p.K101_T102insCG
c.301_305ins6
1 paper
NM_000546.6
p.V97_Q100del4
c.289_299del12
1 paper
NM_000546.6
p.S95_Q100del6
c.283_299del18
2 papers
NM_000546.6
p.K101fs
c.301_302fs
11 papers
NM_000546.6
p.Q100H
c.300G>T
8 papers
NM_000546.6
p.Q100fs
c.298_299fs
8 papers
NM_000546.6
p.Q100H
c.300G>C
2 papers
NM_000546.6
p.Q100Q
c.300G>A
1 paper
NM_000546.6
p.Q100delFs
c.298_299delTG
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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."