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

27 papers

NM_000546.6

p.N239K

c.717C>G

Surrounding Variants

3 papers

NM_000546.6

p.N239N

c.717C>T

1 paper

NM_000546.6

p.N239_S240insFs

c.717_718ins4

21 papers

NM_000546.6

p.N239fs

c.715_716fs

1 paper

NM_000546.6

p.N239_S240insFs

c.717_718ins4

3 papers

NM_000546.6

p.N239insFs

c.716dupA

30 papers

NM_000546.6

p.N239K

c.717C>A

9 papers

NM_000546.6

p.N239delFs

c.716delT

2 papers

NM_000546.6

p.N239delFs

c.715_716delTT

11 papers

NM_000546.6

p.S240fs

c.718_719fs

18 papers

NM_000546.6

p.N239I

c.716A>T

15 papers

NM_000546.6

p.S240C

c.718A>T

147 papers

NM_000546.6

p.N239S

c.716A>G