Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E51Q

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
9 papers
NM_000546.6
p.E51Q
c.151G>C
Surrounding Variants
53 papers
NM_000546.6
p.E51*
c.151G>T
2 papers
NM_000546.6
p.I50_E51insFs
c.150_151insT
16 papers
NM_000546.6
p.E51K
c.151G>A
NM_001126118.2
p.E12K
c.34G>A
5 papers
NM_000546.6
p.I50delFs
c.150delA
2 papers
NM_000546.6
p.I50delFs
c.149_150delAA
1 paper
NM_000546.6
p.I50del1
c.148_149delAAT
1 paper
NM_000546.6
p.D49_I50delFs
c.147_150del4
3 papers
NM_000546.6
p.P47_I50del4
c.139_149del12
1 paper
NM_000546.6
p.S46_I50delFs
c.137_150del14
2 papers
NM_000546.6
p.L45_I50del6
c.133_149del18
12 papers
NM_000546.6
p.E51fs
c.151_152fs
12 papers
NM_000546.6
p.I50fs
c.148_149fs
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