Varaico: Literature-Extracted Genetic Variants

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

25 papers

NM_000546.6

p.I251T

c.752T>C

Surrounding Variants

1 paper

NM_000546.6

p.I251insFs

c.751dupA

1 paper

NM_000546.6

p.R249_I251insFs

c.747_751dup5

46 papers

NM_000546.6

p.I251S

c.752T>G

52 papers

NM_000546.6

p.I251N

c.752T>A

2 papers

NM_000546.6

p.I251delFs

c.751delT

1 paper

NM_000546.6

p.P250_I251delFs

c.750_751delTG

2 papers

NM_000546.6

p.P250_I251del1

c.749_751delTGG

3 papers

NM_000546.6

p.R249_I251del0

c.746_751del6

1 paper

NM_000546.6

p.R249_I251delFs

c.745_751del7

1 paper

NM_000546.6

p.N247_P250del4

c.739_749del12

1 paper

NM_000546.6

p.N247_I251delins

c.739_752delinsGG

3 papers

NM_000546.6

p.I251I

c.753C>T