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

3 papers

NM_000546.6

p.L252I

c.754C>A

Surrounding Variants

23 papers

NM_000546.6

p.L252F

c.754C>T

NM_001126118.2

p.L213F

c.637C>T

3 papers

NM_000546.6

p.L252V

c.754C>G

1 paper

NM_000546.6

p.L252insFs

c.754_755insG

1 paper

NM_000546.6

p.L252_T253insL

c.754_758ins3

12 papers

NM_000546.6

p.L252fs

c.754_755fs

1 paper

NM_000546.6

p.I251_L252Fs

c.753_754delinsAFs

1 paper

NM_000546.6

p.P250_L252Fs

c.750_754delinsAFs

1 paper

NM_000546.6

p.R249_I251del3

c.745_752del9

1 paper

NM_000546.6

p.L252insFs

c.754dupC

1 paper

NM_000546.6

p.P250_L252insFs

c.750_754dup5

4 papers

NM_000546.6

p.L252R

c.755T>G

67 papers

NM_000546.6

p.L252P

c.755T>C