Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.H214fs

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
16 papers
NM_000546.6
p.H214fs
c.640_641fs
Surrounding Variants
1 paper
NM_000546.6
p.H214_S215insFs
c.642_643insAG
1 paper
NM_000546.6
p.H214_S215ins2
c.642_643ins6
1 paper
NM_000546.6
p.H214insFs
c.640_641dupCA
26 papers
NM_000546.6
p.H214Q
c.642T>G
3 papers
NM_000546.6
p.H214H
c.642T>C
24 papers
NM_000546.6
p.H214Q
c.642T>A
6 papers
NM_000546.6
p.H214delFs
c.641delT
1 paper
NM_000546.6
p.H214delFs
c.640_641delTG
1 paper
NM_000546.6
p.R213_H214delFs
c.638_641del4
3 papers
NM_000546.6
p.T211_H214delFs
c.632_641del10
1 paper
NM_000546.6
p.N210_H214delFs
c.629_641del13
1 paper
NM_000546.6
p.R209_H214delFs
c.626_641del16
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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."