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

20 papers

NM_000546.6

p.L348S

c.1043T>C

Surrounding Variants

9 papers

NM_000546.6

p.L348W

c.1043T>G

8 papers

NM_000546.6

p.L348*

c.1043T>A

1 paper

NM_000546.6

p.L348insFs

c.1042_1043ins7

5 papers

NM_000546.6

p.L348V

c.1042T>G

1 paper

NM_000546.6

p.L348M

c.1042T>A

5 papers

NM_000546.6

p.A347delFs

c.1041delG

1 paper

NM_000546.6

p.L344_A347del4

c.1030_1040del12

17 papers

NM_000546.6

p.L348F

c.1044G>T

5 papers

NM_000546.6

p.L348fs

c.1042_1043fs

17 papers

NM_000546.6

p.L348F

c.1044G>C

3 papers

NM_000546.6

p.L348delFs

c.1043delA

8 papers

NM_000546.6

p.L348fs

c.1042_1043fs