Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L194I

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
6 papers
NM_000546.6
p.L194I
c.580C>A
Surrounding Variants
9 papers
NM_000546.6
p.L194fs
c.580_581fs
225 papers
NM_000546.6
p.L194F
c.580C>T
5 papers
NM_000546.6
p.L194V
c.580C>G
1 paper
NM_000546.6
p.L194insFs
c.580_581insT
1 paper
NM_000546.6
p.L194insFs
c.580_581ins14
1 paper
NM_000546.6
p.Q192_L194delins
c.574_580delinsTAGCATT
4 papers
NM_000546.6
p.H193fs
c.577_578fs
280 papers
NM_000546.6
p.L194R
c.581T>G
NM_001126115.2
p.L62R
c.185T>G
12 papers
NM_000546.6
p.H193Q
c.579T>G
68 papers
NM_000546.6
p.L194P
c.581T>C
2 papers
NM_000546.6
p.H193H
c.579T>C
54 papers
NM_000546.6
p.L194H
c.581T>A
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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."