Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.N247K

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
9 papers
NM_000546.6
p.N247K
c.741C>A
Surrounding Variants
12 papers
NM_000546.6
p.N247N
c.741C>T
9 papers
NM_000546.6
p.N247K
c.741C>G
3 papers
NM_000546.6
p.N247fs
c.739_740fs
2 papers
NM_000546.6
p.N247_R248insFs
c.741_742insA
1 paper
NM_000546.6
p.N247insFs
c.740_741ins5
2 papers
NM_000546.6
p.M246_N247delFs
c.737_740del4
1 paper
NM_000546.6
p.G244_N247delFs
c.730_740del11
2 papers
NM_000546.6
p.M243_N247del0
c.729_740del12
9 papers
NM_000546.6
p.R248fs
c.742_743fs
2232 papers
NM_000546.6
p.R248W
c.742C>T
NM_001276697.3
p.R89W
c.265C>T
176 papers
NM_000546.6
p.R248G
c.742C>G
1 paper
NM_000546.6
p.R248insFs
c.742_743insGG
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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."