Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C242S

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
171 papers
NM_000546.6
p.C242S
c.724T>A
Surrounding Variants
3 papers
NM_000546.6
p.S241_C242insFs
c.723_724insC
58 papers
NM_000546.6
p.C242G
c.724T>G
66 papers
NM_000546.6
p.C242R
c.724T>C
74 papers
NM_000546.6
p.S241delFs
c.723delG
1 paper
NM_000546.6
p.S241delFs
c.722_723delGG
1 paper
NM_000546.6
p.N239_S241delFs
c.716_723del8
1 paper
NM_000546.6
p.N239_S241del0
c.715_723del9
42 papers
NM_000546.6
p.C242fs
c.724_725fs
244 papers
NM_000546.6
p.C242F
c.725G>T
NM_001126115.2
p.C110F
c.329G>T
1 paper
NM_000546.6
p.S241_C242ins0
c.722_724dupCCT
1 paper
NM_000546.6
p.S241_C242insFs
c.721_724dup4
170 papers
NM_000546.6
p.C242S
c.725G>C
NM_001126115.2
p.C110S
c.329G>C
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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."