Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L257P

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
82 papers
NM_000546.6
p.L257P
c.770T>C
Surrounding Variants
1 paper
NM_000546.6
p.L257insFs
c.769dupC
46 papers
NM_000546.6
p.L257R
c.770T>G
71 papers
NM_000546.6
p.L257Q
c.770T>A
5 papers
NM_000546.6
p.T256_L257delFs
c.768_769delGT
1 paper
NM_000546.6
p.T256_L257Fs
c.766_770delinsCAGGTCAGGACATCCAFs
1 paper
NM_000546.6
p.P250_L257delFs
c.750_769del20
2 papers
NM_001126115.2
p.L125L
c.375G>T
10 papers
NM_000546.6
p.L257fs
c.769_770fs
5 papers
NM_001126115.2
p.L125L
c.375G>A
NM_000546.6
p.L257L
c.771G>A
5 papers
NM_000546.6
p.L257delFs
c.770delA
15 papers
NM_000546.6
p.L257fs
c.769_770fs
1 paper
NM_000546.6
p.L252_L257del0
c.756_770del15
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