Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.H193D

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
57 papers
NM_000546.6
p.H193D
c.577C>G
Surrounding Variants
5 papers
NM_000546.6
p.H193fs
c.577_578fs
217 papers
NM_000546.6
p.H193Y
c.577C>T
1 paper
NM_000546.6
p.Q192insFs
c.576dupG
1 paper
NM_000546.6
p.H193_L194insA
c.577_581ins3
54 papers
NM_000546.6
p.H193N
c.577C>A
1 paper
NM_000546.6
p.Q192_H193delins
c.576_577delinsCA
1 paper
NM_000546.6
p.P190_Q192delFs
c.570_576del7
1 paper
NM_000546.6
p.G187_Q192delFs
c.560_576del17
17 papers
NM_000546.6
p.Q192H
c.576G>T
9 papers
NM_000546.6
p.Q192fs
c.574_575fs
2 papers
NM_000546.6
p.Q192insFs
c.575dupA
17 papers
NM_000546.6
p.Q192H
c.576G>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."