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

9 papers

NM_000546.6

p.I251V

c.751A>G

Surrounding Variants

21 papers

NM_000546.6

p.I251fs

c.751_752fs

43 papers

NM_000546.6

p.I251F

c.751A>T

48 papers

NM_000546.6

p.I251L

c.751A>C

1 paper

NM_000546.6

p.I251insFs

c.751_752insC

11 papers

NM_000546.6

p.P250delFs

c.750delG

1 paper

NM_000546.6

p.P250delFs

c.749_750delGG

1 paper

NM_000546.6

p.P250del1

c.748_749delGGG

1 paper

NM_000546.6

p.R249_P250delFs

c.746_750del5

1 paper

NM_000546.6

p.R249_I251Fs

c.745_751delinsTTCCCTFs

1 paper

NM_000546.6

p.R248_P250delFs

c.743_750del8

1 paper

NM_000546.6

p.R248_P250del0

c.742_750del9

1 paper

NM_000546.6

p.C242_P250del0

c.724_750del27