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

2 papers

NM_000546.6

p.K372N

c.1116A>T

Surrounding Variants

2 papers

NM_000546.6

p.K372N

c.1116A>C

14 papers

NM_000546.6

p.K373fs

c.1117_1118fs

2 papers

NM_000546.6

p.K373*

c.1117A>T

2 papers

NM_000546.6

p.K372I

c.1115A>T

16 papers

NM_000546.6

p.K372R

c.1115A>G

6 papers

NM_000546.6

p.K373E

c.1117A>G

10 papers

NM_000546.6

p.K373Q

c.1117A>C

5 papers

NM_000546.6

p.K372T

c.1115A>C

1 paper

NM_000546.6

p.S371_K372insFs

c.1111_1114dup4

1 paper

NM_000546.6

p.K372_K373delins

c.1116_1117delinsTT

4 papers

NM_000546.6

p.K373M

c.1118A>T

33 papers

NM_000546.6

p.K373R

c.1118A>G