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.Q331_I332Splc

c.994-2A>G

Surrounding Variants

12 papers

NM_000546.6

p.Q331_I332Splc

c.994-2A>T

10 papers

NM_000546.6

p.Q331_I332Splc

c.994-2A>C

17 papers

NM_000546.6

p.Q331_I332Splc

c.994-1G>T

51 papers

NM_000546.6

p.Q331_I332Splc

c.994-1G>C

70 papers

NM_000546.6

p.Q331_I332Splc

c.994-1G>A

NM_001126118.2

p.Q292_I293Splc

c.877-1G>A

1 paper

NM_000546.6

p.Q331_I332Splc

c.994-3C>T

3 papers

NM_000546.6

p.Q331_I332Splc

c.994-3C>G

11 papers

NM_000546.6

p.I332fs

c.994_995fs

17 papers

NM_000546.6

p.I332F

c.994A>T

11 papers

NM_000546.6

p.I332V

c.994A>G

4 papers

NM_000546.6

p.I332L

c.994A>C

1 paper

NM_000546.6

p.I332insFs

c.994dupA