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

18 papers

NM_000546.6

p.E343K

c.1027G>A

NM_001276697.3

p.E184K

c.550G>A

Surrounding Variants

57 papers

NM_000546.6

p.E343*

c.1027G>T

11 papers

NM_000546.6

p.E343Q

c.1027G>C

2 papers

NM_000546.6

p.R342delFs

c.1026delT

18 papers

NM_000546.6

p.E343fs

c.1027_1028fs

1 paper

NM_000546.6

p.F341_R342delFs

c.1022_1026del5

5 papers

NM_000546.6

p.E343V

c.1028A>T

10 papers

NM_000546.6

p.E343G

c.1028A>G

2 papers

NM_000546.6

p.R342R

c.1026A>G

12 papers

NM_000546.6

p.E343A

c.1028A>C

1 paper

NM_000546.6

p.R337_E343insFs

c.1009_1027dup19

60 papers

NM_000546.6

p.R342fs

c.1024_1025fs

3 papers

NM_000546.6

p.R342delFs

c.1025delC