Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.H233D

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
13 papers
NM_000546.6
p.H233D
c.697C>G
Surrounding Variants
31 papers
NM_000546.6
p.H233Y
c.697C>T
1 paper
NM_000546.6
p.H233insFs
c.697_698insG
1 paper
NM_000546.6
p.H233_Y234insT
c.697_701ins3
10 papers
NM_000546.6
p.H233N
c.697C>A
1 paper
NM_000546.6
p.I232_H233delins
c.696_697delinsAG
1 paper
NM_000546.6
p.I232del1
c.694_695delGAT
2 papers
NM_000546.6
p.C229_I232del0
c.685_696del12
9 papers
NM_000546.6
p.H233fs
c.697_698fs
3 papers
NM_000546.6
p.I232I
c.696C>T
7 papers
NM_000546.6
p.I232M
c.696C>G
2 papers
NM_000546.6
p.I232insFs
c.695_696insT
8 papers
NM_000546.6
p.I232fs
c.694_695fs
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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."