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

6 papers

NM_001126118.2

p.L344L

c.1032C>T

NM_000546.6

p.L383L

c.1149C>T

Surrounding Variants

1 paper

NM_001126118.2

p.L344L

c.1032C>G

1 paper

NM_000546.6

p.L383insFs

c.1148dupT

2 papers

NM_000546.6

p.L383fs

c.1147_1148fs

3 papers

NM_000546.6

p.L383L

c.1149C>A

3 papers

NM_000546.6

p.L383R

c.1148T>G

3 papers

NM_000546.6

p.L383P

c.1148T>C

2 papers

NM_000546.6

p.L383H

c.1148T>A

2 papers

NM_000546.6

p.L383delFs

c.1147delG

1 paper

NM_000546.6

p.M384fs

c.1150_1151fs

3 papers

NM_000546.6

p.M384L

c.1150A>T

10 papers

NM_000546.6

p.M384V

c.1150A>G

NM_001126115.2

p.M252V

c.754A>G

3 papers

NM_000546.6

p.M384L

c.1150A>C