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.Q331_I332Splc

c.993+3A>T

Surrounding Variants

22 papers

NM_000546.6

p.Q331_I332Splc

c.993+2T>G

20 papers

NM_000546.6

p.Q331_I332Splc

c.993+2T>C

13 papers

NM_000546.6

p.Q331_I332Splc

c.993+2T>A

1 paper

NM_000546.6

p.Q331_I332Splc

c.993+4C>T

1 paper

NM_000546.6

p.Q331_I332Splc

c.993+5T>C

49 papers

NM_000546.6

p.Q331_I332Splc

c.993+1G>T

15 papers

NM_000546.6

p.Q331_I332Splc

c.993+1G>C

84 papers

NM_000546.6

p.Q331_I332Splc

c.993+1G>A

2 papers

NM_000546.6

p.L330_Q331delFs

c.990_993del4

1 paper

NM_000546.6

p.T329_Q331del3

c.985_992del9

2 papers

NM_000546.6

p.F328_Q331del4

c.982_992del12

2 papers

NM_000546.6

p.E326_Q331delFs

c.976_992del17