Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.H179H

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.H179H
c.537T>C
Surrounding Variants
11 papers
NM_000546.6
p.H179fs
c.535_536fs
3 papers
NM_000546.6
p.H179insFs
c.536dupA
212 papers
NM_000546.6
p.H179Q
c.537T>G
214 papers
NM_000546.6
p.H179Q
c.537T>A
3 papers
NM_000546.6
p.H179delFs
c.536delT
2 papers
NM_000546.6
p.H178_H179del1
c.534_536delTGG
1 paper
NM_000546.6
p.C176_H179del0
c.528_536del9
55 papers
NM_000546.6
p.E180*
c.538G>T
1 paper
NM_000546.6
p.H179insFs
c.537dupT
1 paper
NM_000546.6
p.H178_H179ins0
c.532_537dup6
1 paper
NM_000546.6
p.E180insFs
c.538_539ins19
10 papers
NM_000546.6
p.E180Q
c.538G>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."