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

82 papers

NM_000546.6

p.E258*

c.772G>T

Surrounding Variants

1 paper

NM_000546.6

p.E258_D259insGTG

c.772_776ins9

46 papers

NM_000546.6

p.E258Q

c.772G>C

225 papers

NM_000546.6

p.E258K

c.772G>A

1 paper

NM_000546.6

p.L257_E258delins

c.771_772delinsAA

2 papers

NM_000546.6

p.L257delFs

c.770_771delCA

1 paper

NM_000546.6

p.T256_L257del2

c.766_770del6

5 papers

NM_000546.6

p.E258fs

c.772_773fs

2 papers

NM_001126115.2

p.L125L

c.375G>T

10 papers

NM_000546.6

p.L257fs

c.769_770fs

5 papers

NM_001126115.2

p.L125L

c.375G>A

NM_000546.6

p.L257L

c.771G>A

5 papers

NM_000546.6

p.L257delFs

c.770delA

1 paper

NM_000546.6

p.L252_L257del0

c.756_770del15