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

2 papers

NM_000546.6

p.R249_P250del1

c.746_748delGCC

Surrounding Variants

182 papers

NM_000546.6

p.P250L

c.749C>T

7 papers

NM_000546.6

p.P250R

c.749C>G

6 papers

NM_000546.6

p.P250H

c.749C>A

1 paper

NM_000546.6

p.P250delins

c.748_749delinsTT

4 papers

NM_000546.6

p.R248_R249del2

c.742_746del6

1 paper

NM_000546.6

p.N247_P250delFs

c.739_748del10

32 papers

NM_000546.6

p.P250S

c.748C>T

1 paper

NM_000546.6

p.P250P

c.750C>T

8 papers

NM_000546.6

p.P250A

c.748C>G

1 paper

NM_000546.6

p.R249insFs

c.746_747dupGG

1 paper

NM_000546.6

p.P250ins2

c.748_749ins6

6 papers

NM_000546.6

p.P250fs

c.748_749fs