Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L45del1

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.M44_L45del1
c.132_134delAGC
Surrounding Variants
1 paper
NM_000546.6
p.L45_S46insFs
c.135_136insGA
55 papers
NM_000546.6
p.S46A
c.136T>G
17 papers
NM_000546.6
p.S46P
c.136T>C
7 papers
NM_000546.6
p.S46T
c.136T>A
1 paper
NM_000546.6
p.L45delFs
c.135delC
4 papers
NM_000546.6
p.S46fs
c.136_137fs
3 papers
NM_000546.6
p.L45insFs
c.134_135insT
2 papers
NM_000546.6
p.L45fs
c.133_134fs
6 papers
NM_000546.6
p.L45L
c.135G>C
3 papers
NM_000546.6
p.L45L
c.135G>A
1 paper
NM_000546.6
p.L45delFs
c.133_134delAG
1 paper
NM_000546.6
p.M44_L45delFs
c.131_134del4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."