Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.I50S

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
9 papers
NM_000546.6
p.I50S
c.149T>G
Surrounding Variants
5 papers
NM_000546.6
p.I50insFs
c.148dupA
1 paper
NM_000546.6
p.I50insFs
c.149_150ins13
29 papers
NM_000546.6
p.I50T
c.149T>C
12 papers
NM_000546.6
p.I50N
c.149T>A
2 papers
NM_000546.6
p.I50delFs
c.148delT
1 paper
NM_000546.6
p.L45_I50delFs
c.133_148del16
1 paper
NM_000546.6
p.D41_I50del0
c.122_148del27
12 papers
NM_000546.6
p.I50fs
c.148_149fs
10 papers
NM_000546.6
p.I50M
c.150T>G
2 papers
NM_000546.6
p.I50I
c.150T>C
13 papers
NM_000546.6
p.I50I
c.150T>A
1 paper
NM_000546.6
p.D49_I50delFs
c.147_148delTA
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