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

3 papers

NM_000546.6

p.L350I

c.1048C>A

Surrounding Variants

6 papers

NM_000546.6

p.L350F

c.1048C>T

9 papers

NM_000546.6

p.L350V

c.1048C>G

1 paper

NM_000546.6

p.E349insFs

c.1046dupA

2 papers

NM_000546.6

p.L350fs

c.1048_1049fs

2 papers

NM_000546.6

p.E349delFs

c.1047delT

1 paper

NM_000546.6

p.L350insFs

c.1048dupC

4 papers

NM_000546.6

p.L350R

c.1049T>G

13 papers

NM_000546.6

p.L350P

c.1049T>C

3 papers

NM_000546.6

p.L350H

c.1049T>A

9 papers

NM_000546.6

p.E349D

c.1047A>T

1 paper

NM_000546.6

p.E349E

c.1047A>G

9 papers

NM_000546.6

p.E349D

c.1047A>C