Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q100*

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
89 papers
NM_000546.6
p.Q100*
c.298C>T
NM_001126118.2
p.Q61*
c.181C>T
Surrounding Variants
11 papers
NM_000546.6
p.Q100fs
c.298_299fs
6 papers
NM_000546.6
p.Q100E
c.298C>G
9 papers
NM_000546.6
p.Q100K
c.298C>A
2 papers
NM_000546.6
p.S99_Q100delins
c.297_298delinsTT
16 papers
NM_000546.6
p.P98_S99delFs
c.294_297del4
2 papers
NM_000546.6
p.S96_S99delFs
c.288_297del10
1 paper
NM_000546.6
p.S99S
c.297C>T
11 papers
NM_000546.6
p.S99fs
c.295_296fs
8 papers
NM_001126118.2
p.Q61L
c.182A>T
NM_000546.6
p.Q100L
c.299A>T
7 papers
NM_000546.6
p.Q100R
c.299A>G
7 papers
NM_000546.6
p.Q100P
c.299A>C
1 paper
NM_000546.6
p.Q100insFs
c.298dupC
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