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

7 papers

NM_000546.6

p.Q104E

c.310C>G

Surrounding Variants

3 papers

NM_000546.6

p.Q104fs

c.310_311fs

107 papers

NM_000546.6

p.Q104*

c.310C>T

1 paper

NM_000546.6

p.Q104insFs

c.310_311ins11

1 paper

NM_000546.6

p.Y103insFs

c.308_309dupAC

1 paper

NM_000546.6

p.Q104_G105insA

c.310_314ins3

5 papers

NM_000546.6

p.Q104K

c.310C>A

1 paper

NM_000546.6

p.Y103_Q104delins

c.309_310delinsTT

2 papers

NM_000546.6

p.Y103delFs

c.308_309delGT

1 paper

NM_000546.6

p.Y103del1

c.307_308delGTA

1 paper

NM_000546.6

p.K101_Y103del3

c.301_308del9

3 papers

NM_000546.6

p.Y103Y

c.309C>T

65 papers

NM_000546.6

p.Y103*

c.309C>G