Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.K249E

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
7 papers
NM_001126115.2
p.K249E
c.745A>G
NM_000546.6
p.K381E
c.1141A>G
Surrounding Variants
4 papers
NM_000546.6
p.K381*
c.1141A>T
11 papers
NM_000546.6
p.K381Q
c.1141A>C
1 paper
NM_000546.6
p.H380insFs
c.1140dupT
1 paper
NM_000546.6
p.K381insFs
c.1141_1142insG
1 paper
NM_000546.6
p.K381_K382insA
c.1141_1145ins3
1 paper
NM_000546.6
p.H380delFs
c.1140delA
1 paper
NM_000546.6
p.R379_H380del2
c.1135_1139del6
1 paper
NM_000546.6
p.Q375_H380delFs
c.1125_1140del16
1 paper
NM_000546.6
p.T377_H380insFs
c.1129_1139dup11
2 papers
NM_000546.6
p.H380Q
c.1140T>G
2 papers
NM_000546.6
p.H380Q
c.1140T>A
1 paper
NM_000546.6
p.H380delFs
c.1139delT
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