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

1107 papers

NM_000546.6

p.R249S

c.747G>T

NM_001126115.2

p.R117S

c.351G>T

Surrounding Variants

7 papers

NM_000546.6

p.R249fs

c.745_746fs

1102 papers

NM_000546.6

p.R249S

c.747G>C

NM_001126115.2

p.R117S

c.351G>C

6 papers

NM_000546.6

p.R249R

c.747G>A

2 papers

NM_000546.6

p.R249delins

c.746_747delinsTT

1 paper

NM_000546.6

p.R249delins

c.746_747delinsCC

1 paper

NM_000546.6

p.R249delins

c.746_747delinsCA

1 paper

NM_000546.6

p.R249delins

c.745_747delinsGGT

1 paper

NM_000546.6

p.G244_R249del0

c.731_745del15

1 paper

NM_000546.6

p.S240_R249del0

c.720_746del27

174 papers

NM_000546.6

p.R249M

c.746G>T

84 papers

NM_000546.6

p.R249T

c.746G>C

53 papers

NM_000546.6

p.R249K

c.746G>A