Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L330V

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
2 papers
NM_000546.6
p.L330V
c.988C>G
Surrounding Variants
8 papers
NM_000546.6
p.L330fs
c.988_989fs
15 papers
NM_000546.6
p.L330F
c.988C>T
5 papers
NM_000546.6
p.L330I
c.988C>A
1 paper
NM_000546.6
p.T329del1
c.985_986delGGT
2 papers
NM_000546.6
p.E326_T329del4
c.976_986del12
1 paper
NM_000546.6
p.D324_T329del6
c.970_986del18
1 paper
NM_000546.6
p.K321_T329del9
c.961_986del27
1 paper
NM_000546.6
p.L330insFs
c.988dupC
38 papers
NM_000546.6
p.L330R
c.989T>G
33 papers
NM_000546.6
p.L330P
c.989T>C
32 papers
NM_000546.6
p.L330H
c.989T>A
18 papers
NM_001126118.2
p.T290delFs
c.869delG
NM_000546.6
p.L330delFs
c.988delG
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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."