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

1 paper

NM_000546.6

p.R379fs

c.1135_1136fs

Surrounding Variants

3 papers

NM_001126118.2

p.R340R

c.1020C>T

NM_000546.6

p.R379R

c.1137C>T

2 papers

NM_000546.6

p.H380fs

c.1138_1139fs

11 papers

NM_000546.6

p.R379L

c.1136G>T

1 paper

NM_001126115.2

p.R247P

c.740G>C

25 papers

NM_000546.6

p.R379H

c.1136G>A

NM_001126115.2

p.R247H

c.740G>A

1 paper

NM_000546.6

p.S378delFs

c.1133delG

9 papers

NM_001126115.2

p.H248Y

c.742C>T

NM_000546.6

p.H380Y

c.1138C>T

2 papers

NM_000546.6

p.H380D

c.1138C>G

1 paper

NM_000546.6

p.H380_K381insT

c.1138_1142ins3

1 paper

NM_000546.6

p.H380_K381insTA

c.1138_1142ins6

2 papers

NM_000546.6

p.H380N

c.1138C>A

1 paper

NM_000546.6

p.T377_R379del3

c.1129_1136del9