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

112 papers

NM_000546.6

p.Y220S

c.659A>C

Surrounding Variants

7 papers

NM_000546.6

p.Y220F

c.659A>T

1608 papers

NM_000546.6

p.Y220C

c.659A>G

1 paper

NM_000546.6

p.Y220ins1

c.659_660insCCT

2 papers

NM_000546.6

p.Y220delFs

c.658delA

1 paper

NM_000546.6

p.V218_Y220delFs

c.654_658del5

1 paper

NM_000546.6

p.V217_Y220del0

c.650_658del9

1 paper

NM_000546.6

p.F212_Y220delFs

c.634_658del25

1 paper

NM_000546.6

p.Y220_E221insFs

c.660_661insG

1 paper

NM_000546.6

p.P219_Y220insFs

c.657_658insC

16 papers

NM_000546.6

p.Y220fs

c.658_659fs

60 papers

NM_000546.6

p.Y220*

c.660T>G

45 papers

NM_000546.6

p.Y220D

c.658T>G