Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.C242*

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
31 papers
NM_000546.6
p.C242*
c.726C>A
Surrounding Variants
2 papers
NM_000546.6
p.C242C
c.726C>T
36 papers
NM_000546.6
p.C242W
c.726C>G
63 papers
NM_000546.6
p.C242fs
c.724_725fs
1 paper
NM_000546.6
p.C242Fs
c.725_726delinsTFs
1 paper
NM_000546.6
p.C242delins
c.725_726delinsTT
2 papers
NM_000546.6
p.C242delFs
c.725delC
1 paper
NM_000546.6
p.C242delins
c.725_726delinsCA
1 paper
NM_000546.6
p.N239_C242delFs
c.715_725del11
1 paper
NM_000546.6
p.C238_C242delFs
c.712_725del14
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
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