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

13 papers

NM_000546.6

p.N247T

c.740A>C

Surrounding Variants

71 papers

NM_000546.6

p.N247I

c.740A>T

18 papers

NM_000546.6

p.N247S

c.740A>G

1 paper

NM_000546.6

p.N247insFs

c.740_741insG

1 paper

NM_000546.6

p.N247insFs

c.740_741insC

1 paper

NM_000546.6

p.M246del1

c.736_737delCAT

2 papers

NM_000546.6

p.M243_N247del0

c.728_739del12

1 paper

NM_000546.6

p.C242_N247delFs

c.724_739del16

1 paper

NM_000546.6

p.M237_N247del0

c.710_739del30

12 papers

NM_000546.6

p.N247N

c.741C>T

9 papers

NM_000546.6

p.N247K

c.741C>G

3 papers

NM_000546.6

p.N247fs

c.739_740fs

2 papers

NM_000546.6

p.N247_R248insFs

c.741_742insA