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.Q331_I332Splc

c.993+223T>C

Surrounding Variants

4 papers

NM_000546.6

p.Q331_I332Splc

c.993+223T>G

NM_001126114.3

p.C341G

c.1021T>G

2 papers

NM_001126114.3

p.C341S

c.1021T>A

NM_000546.6

p.Q331_I332Splc

c.993+223T>A

2 papers

NM_001126114.3

p.C341S

c.1022G>C

1 paper

NM_001126116.2

p.C209Y

c.626G>A

3 papers

NM_001126114.3

p.N340D

c.1018A>G

NM_000546.6

p.Q331_I332Splc

c.993+220A>G

2 papers

NM_000546.6

p.Q331_I332Splc

c.993+227A>G

NM_001126114.3

p.*342*

c.1025A>G

5 papers

NM_000546.6

p.Q331_I332Splc

c.993+227A>C

NM_001126114.3

p.*342S

c.1025A>C

4 papers

NM_000546.6

p.Q331_I332Splc

c.993+228A>G

NM_001126114.3

p.*342*

c.1026A>G

1 paper

NM_001126113.3

p.Q331_M332Splc

c.994-51A>C

1 paper

NM_000546.6

p.Q331_I332Splc

c.993+217G>C

NM_001126114.3

p.E339Q

c.1015G>C

3 papers

NM_001126114.3

p.E339K

c.1015G>A

1 paper

NM_001126114.3

p.K338N

c.1014A>T