Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.H193Q

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
12 papers
NM_000546.6
p.H193Q
c.579T>G
Surrounding Variants
4 papers
NM_000546.6
p.H193fs
c.577_578fs
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
7 papers
NM_000546.6
p.Q192del1
c.574_575delCTG
1 paper
NM_000546.6
p.A189_H193delFs
c.566_578del13
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
6 papers
NM_000546.6
p.L194I
c.580C>A
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