Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L350L

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.L350L
c.1050C>T
Surrounding Variants
3 papers
NM_000546.6
p.L350_K351insFs
c.1050_1051insT
1 paper
NM_000546.6
p.L350fs
c.1048_1049fs
1 paper
NM_000546.6
p.L350delFs
c.1049delA
1 paper
NM_000546.6
p.E346_L350delFs
c.1036_1049del14
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
3 papers
NM_000546.6
p.K351fs
c.1051_1052fs
24 papers
NM_000546.6
p.K351*
c.1051A>T
24 papers
NM_000546.6
p.K351E
c.1051A>G
5 papers
NM_000546.6
p.K351Q
c.1051A>C
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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."