Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.P250P

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.P250P
c.750C>A
Surrounding Variants
1 paper
NM_000546.6
p.P250P
c.750C>T
6 papers
NM_000546.6
p.P250fs
c.748_749fs
2 papers
NM_000546.6
p.P250delins
c.749_750delinsTT
1 paper
NM_000546.6
p.R249_P250delFs
c.746_749del4
1 paper
NM_000546.6
p.N247_P250delins
c.741_750delinsA
1 paper
NM_000546.6
p.N247_P250delFs
c.740_749del10
1 paper
NM_000546.6
p.G245_P250delFs
c.733_749del17
182 papers
NM_000546.6
p.P250L
c.749C>T
7 papers
NM_000546.6
p.P250R
c.749C>G
6 papers
NM_000546.6
p.P250H
c.749C>A
21 papers
NM_000546.6
p.I251fs
c.751_752fs
1 paper
NM_000546.6
p.P250delins
c.748_749delinsTT
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