Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.H193R

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
444 papers
NM_000546.6
p.H193R
c.578A>G
Surrounding Variants
205 papers
NM_000546.6
p.H193L
c.578A>T
96 papers
NM_000546.6
p.H193P
c.578A>C
NM_001126116.2
p.H61P
c.182A>C
1 paper
NM_000546.6
p.H193delFs
c.577delG
1 paper
NM_000546.6
p.P191_Q192del2
c.571_575del6
1 paper
NM_000546.6
p.P191_H193delFs
c.571_577del7
1 paper
NM_000546.6
p.A189_H193delFs
c.567_577del11
1 paper
NM_000546.6
p.L188_Q192del5
c.562_575del15
4 papers
NM_000546.6
p.H193fs
c.577_578fs
12 papers
NM_000546.6
p.H193Q
c.579T>G
2 papers
NM_000546.6
p.H193H
c.579T>C
12 papers
NM_000546.6
p.H193Q
c.579T>A
1 paper
NM_000546.6
p.H193delFs
c.578delT
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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."