Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.E224_V225Splc

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
18 papers
NM_000546.6
p.E224_V225Splc
c.672+2T>C
Surrounding Variants
17 papers
NM_000546.6
p.E224_V225Splc
c.672+2T>G
14 papers
NM_000546.6
p.E224_V225Splc
c.672+2T>A
1 paper
NM_000546.6
p.E224delFs
c.672delC
72 papers
NM_000546.6
p.E224_V225Splc
c.672+1G>T
1 paper
NM_000546.6
p.E224insFs
c.671_672dupAG
11 papers
NM_000546.6
p.E224_V225Splc
c.672+1G>C
78 papers
NM_000546.6
p.E224_V225Splc
c.672+1G>A
1 paper
NM_000546.6
p.E224delFs
c.671_672delCT
1 paper
NM_000546.6
p.P223_E224del2
c.667_671del6
1 paper
NM_000546.6
p.Y220_E224delFs
c.659_672del14
1 paper
NM_000546.6
p.V218_E224del0
c.652_672del21
110 papers
NM_000546.6
p.E224D
c.672G>T
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