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

4 papers

NM_000546.6

p.Q317L

c.950A>T

Surrounding Variants

19 papers

NM_000546.6

p.Q317R

c.950A>G

4 papers

NM_000546.6

p.Q317P

c.950A>C

9 papers

NM_000546.6

p.Q317insFs

c.949_950insC

1 paper

NM_000546.6

p.P316_Q317insFs

c.946_949dup4

14 papers

NM_000546.6

p.Q317delFs

c.949delG

3 papers

NM_000546.6

p.P316_Q317delFs

c.948_949delGG

8 papers

NM_000546.6

p.Q317H

c.951G>T

20 papers

NM_000546.6

p.Q317fs

c.949_950fs

1 paper

NM_000546.6

p.Q317_P318insFs

c.951_952insA

9 papers

NM_000546.6

p.Q317H

c.951G>C

1 paper

NM_000546.6

p.Q317Q

c.951G>A

3 papers

NM_000546.6

p.Q317delFs

c.950delT