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

38 papers

NM_000546.6

p.L330R

c.989T>G

Surrounding Variants

1 paper

NM_000546.6

p.L330insFs

c.988dupC

33 papers

NM_000546.6

p.L330P

c.989T>C

32 papers

NM_000546.6

p.L330H

c.989T>A

18 papers

NM_001126118.2

p.T290delFs

c.869delG

NM_000546.6

p.L330delFs

c.988delG

1 paper

NM_000546.6

p.F328_L330delFs

c.984_988del5

18 papers

NM_000546.6

p.L330fs

c.988_989fs

8 papers

NM_000546.6

p.L330fs

c.988_989fs

1 paper

NM_000546.6

p.T329_L330delFs

c.985_989del5

1 paper

NM_000546.6

p.Y327_L330delFs

c.980_989del10

15 papers

NM_000546.6

p.L330F

c.988C>T

2 papers

NM_000546.6

p.L330V

c.988C>G

5 papers

NM_000546.6

p.L330I

c.988C>A