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

36 papers

NM_000546.6

p.L130R

c.389T>G

Surrounding Variants

1 paper

NM_000546.6

p.L130insFs

c.389_390insG

4 papers

NM_000546.6

p.L130insFs

c.388dupC

1 paper

NM_000546.6

p.A129_L130insFs

c.387_388dupCC

1 paper

NM_000546.6

p.L130insFs

c.389_390insA

43 papers

NM_000546.6

p.L130P

c.389T>C

40 papers

NM_000546.6

p.L130H

c.389T>A

5 papers

NM_000546.6

p.L130delFs

c.388delG

1 paper

NM_000546.6

p.L130delins

c.388_389delinsTG

1 paper

NM_000546.6

p.L130delins

c.388_389delinsGG

1 paper

NM_000546.6

p.L130delins

c.388_389delinsGC

1 paper

NM_000546.6

p.L130delins

c.388_389delinsAC

1 paper

NM_000546.6

p.L130delins

c.388_389delinsTA