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

4 papers

NM_000546.6

p.E349Q

c.1045G>C

Surrounding Variants

96 papers

NM_000546.6

p.E349*

c.1045G>T

10 papers

NM_000546.6

p.E349K

c.1045G>A

NM_001126115.2

p.E217K

c.649G>A

3 papers

NM_000546.6

p.L348_E349delins

c.1044_1045delinsTT

1 paper

NM_000546.6

p.F341_L348del8

c.1021_1043del24

10 papers

NM_000546.6

p.E349fs

c.1045_1046fs

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

1 paper

NM_000546.6

p.A347_L348delins

c.1041_1044delinsT

1 paper

NM_000546.6

p.L344_L348delFs

c.1031_1043del13

5 papers

NM_001126115.2

p.E217V

c.650A>T

NM_000546.6

p.E349V

c.1046A>T