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

26 papers

NM_000546.6

p.R335H

c.1004G>A

Surrounding Variants

8 papers

NM_000546.6

p.R335L

c.1004G>T

1 paper

NM_000546.6

p.R335insFs

c.1004_1005ins1

1 paper

NM_000546.6

p.R335insFs

c.1004_1005insA

3 papers

NM_000546.6

p.R335P

c.1004G>C

1 paper

NM_000546.6

p.R333_R335delFs

c.997_1003del7

10 papers

NM_000546.6

p.R335fs

c.1003_1004fs

1 paper

NM_000546.6

p.R335R

c.1005T>G

1 paper

NM_000546.6

p.R335R

c.1005T>C

1 paper

NM_000546.6

p.R335R

c.1005T>A

4 papers

NM_000546.6

p.R335delFs

c.1004delC

13 papers

NM_000546.6

p.R335fs

c.1003_1004fs

24 papers

NM_000546.6

p.R335C

c.1003C>T