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Gene Symbol TP53
Synonyms BCC7 | BMFS5 | LFS1 | P53 | TRP53
Gene Description TP53, tumor protein p53, is a tumor suppressor (PMID: 30562755) and oncogene (PMID: 30577483) involved in cell cycle arrest and apoptosis, and is the most frequently mutated gene in cancer (PMID: 10065147, PMID: 22713868). TP53 germline mutations are common in Li-Fraumeni syndrome (PMID: 30239254) and somatic missense mutations are frequent in almost all cancer types (PMID: 30224644) and are also implicated in chemoresistance (PMID: 9927204, PMID: 24065105, PMID: 27066457).
ACMG Incidental List v3.0:
Yes, Li-Fraumeni syndrome (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
7157 17 17p13.1 NM_000546 Both: Oncogene and Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
R175X missense unknown TP53 R175X indicates a hotspot mutation resulting in an amino acid change at codon 175 of the Tp53 protein, which often results in a loss of Tp53 protein function.
R273X missense unknown TP53 R273X indicates a hotspot mutation resulting in an amino acid change at codon 273 of the Tp53 protein, which often results in a loss of Tp53 protein function.
act mut unknown gain of function TP53 act mut indicates that this variant results in a gain of function in the Tp53 protein. However, the specific amino acid change has not been identified.
exon10 unknown unknown TP53 exon 10 indicates an unspecified mutation has occurred in exon 10 of the TP53 gene.
exon11 unknown unknown TP53 exon 11 indicates an unspecified mutation has occurred in exon 11 of the TP53 gene.
exon2 unknown unknown TP53 exon 2 indicates an unspecified mutation has occurred in exon 2 of the TP53 gene.
exon4 unknown unknown TP53 exon 4 indicates an unspecified mutation has occurred in exon 4 of the TP53 gene.
exon5 unknown unknown TP53 exon 5 indicates an unspecified mutation has occurred in exon 5 of the TP53 gene.
exon6 unknown unknown TP53 exon 6 indicates an unspecified mutation has occurred in exon 6 of the TP53 gene.
exon7 unknown unknown TP53 exon 7 indicates an unspecified mutation has occurred in exon 7 of the TP53 gene.
exon8 unknown unknown TP53 exon 8 indicates an unspecified mutation has occurred in exon 8 of the TP53 gene.
exon9 unknown unknown TP53 exon 9 indicates an unspecified mutation has occurred in exon 9 of the TP53 gene.
inact mut unknown loss of function TP53 inact mut indicates that this variant results in a loss of function of the Tp53 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown TP53 mutant indicates an unspecified mutation within the TP53 gene.
A159fs frameshift loss of function - predicted TP53 A159fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 159 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). A159fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of A159 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
A307fs frameshift loss of function - predicted TP53 A307fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 307 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). A307fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of A307 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
A88fs frameshift loss of function - predicted TP53 A88fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 88 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). A88fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of A88 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
C124fs frameshift loss of function - predicted TP53 C124fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 124 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). C124fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of C124 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
C135fs frameshift loss of function - predicted TP53 C135fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 135 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). C135fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of C135 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
C242fs frameshift loss of function - predicted TP53 C242fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 242 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). C242fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of C242 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
D21fs frameshift loss of function - predicted TP53 D21fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 21 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). D21fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of D21 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
D228fs frameshift loss of function - predicted TP53 D228fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 228 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). D228fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of D228 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
E204fs frameshift loss of function - predicted TP53 E204fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 204 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). E204fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of E204 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
E224fs frameshift loss of function - predicted TP53 E224fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 224 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). E224fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of E224 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
E349fs frameshift unknown TP53 E349fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 349 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). E349fs has been identified in sequencing studies (PMID: 24140581), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, May 2023).
F134fs frameshift loss of function - predicted TP53 F134fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 134 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). F134fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of F134 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
F212fs frameshift loss of function - predicted TP53 F212fs results in a change in the amino acid sequence of the Tp53 protein beginning at 212 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). F212fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of F212 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
G154fs frameshift loss of function - predicted TP53 G154fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 154 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). G154fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of G154 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
G244fs frameshift loss of function - predicted TP53 G244fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 244 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). G244fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of G244 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
G245fs frameshift loss of function - predicted TP53 G245fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 245 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). G245fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of G245 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
G279fs frameshift loss of function - predicted TP53 G279fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 279 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). G279fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of G279 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
K139fs frameshift loss of function - predicted TP53 K139fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 139 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). K139fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of K139 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
L111fs frameshift loss of function - predicted TP53 L111fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 111 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). L111fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of L111 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
L114fs frameshift loss of function - predicted TP53 L114fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 114 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). L114fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of L114 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
M40fs frameshift loss of function - predicted TP53 M40fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 40 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). M40fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of M40 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
M44fs frameshift loss of function - predicted TP53 M44fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 44 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). M44fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of M44 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
N131fs frameshift loss of function - predicted TP53 N131fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 131 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). N131fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of N131 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
N30fs frameshift loss of function - predicted TP53 N30fs results in a change in the amino acid sequence of the Tp53 protein beginning at 30 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). N30fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of N30 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
P128fs frameshift loss of function - predicted TP53 P128fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 128 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). P128fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P128 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
P152fs frameshift loss of function - predicted TP53 P152fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 152 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). P152fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P152 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
P191fs frameshift loss of function - predicted TP53 P191fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 191 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). P191fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P191 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
P219fs frameshift loss of function - predicted TP53 P219fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 219 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). P219fs results in complete loss of Tp53 expression in patient cells (PMID: 25231023), and due to the effects of truncation mutations downstream of P219 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
P301fs frameshift loss of function - predicted TP53 P301fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 301 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). P301fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P301 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
P72fs frameshift loss of function - predicted TP53 P72fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 72 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). P72fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P72 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
P98fs frameshift loss of function - predicted TP53 P98fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 98 of 393, likely resulting in premature truncation of the functional protein. P98fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of P98 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
R158fs frameshift loss of function - predicted TP53 R158fs results in a change in the amino acid sequence of the Tp53 protein beginning at 158 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R158fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R158 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
R209fs frameshift loss of function - predicted TP53 R209fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 209 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R209fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R209 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
R213fs frameshift loss of function - predicted TP53 R213fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 213 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R213fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R213 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
R282fs frameshift loss of function - predicted TP53 R282fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 282 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R282fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R282 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
R333fs frameshift loss of function - predicted TP53 R333fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 333 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R333fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R333 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
R335fs frameshift loss of function - predicted TP53 R335fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 335 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R335fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of R335 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
R342fs frameshift loss of function - predicted TP53 R342fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 342 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). R342fs has not been biochemically characterized, however, a truncation at R342 results in reduced nuclear localization and decreased transactivation of Tp53 targets (PMID: 16969106), and therefore, is predicted to lead to a loss of Tp53 protein function.
S149fs frameshift loss of function - predicted TP53 S149fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 149 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S149fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S149 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
S20fs frameshift loss of function - predicted TP53 S20fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 20 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S20fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S20 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
S215fs frameshift loss of function - predicted TP53 S215fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 215 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S215fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S215 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
S227fs frameshift loss of function - predicted TP53 S227fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 227 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S227fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S227 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
S241fs frameshift loss of function - predicted TP53 S241fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 241 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S241fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S241 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
S392fs frameshift unknown TP53 S392fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 392 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S392fs has been identified in sequencing studies (PMID: 29604399), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Mar 2023).
S46fs frameshift loss of function - predicted TP53 S46fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 46 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S46fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S46 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
S90fs frameshift loss of function - predicted TP53 S90fs results in a change in the amino acid sequence of the Tp53 protein beginning at 90 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). S90fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of S90 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
T118fs frameshift loss of function - predicted TP53 T118fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 118 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). T118fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of T118 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
T155fs frameshift loss of function - predicted TP53 T155fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 155 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). T155fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of T155 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
T256fs frameshift loss of function - predicted TP53 T256fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 256 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). T256fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of T256 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
T329fs frameshift loss of function - predicted TP53 T329fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 329 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). T329fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of T329 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
V122fs frameshift loss of function - predicted TP53 V122fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 122 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). V122fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of V122 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
V157fs frameshift loss of function - predicted TP53 V157fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 157 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). V157fs results in loss of Tp53 protein expression, and increased proliferation, migration, and invasion in cultured cells (PMID: 33987408), and therefore, is predicted to lead to a loss of Tp53 protein function.
V274fs frameshift loss of function - predicted TP53 V274fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 274 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). V274fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of V274 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
W91fs frameshift loss of function - predicted TP53 W91fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 91 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). W91fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of W91 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Y103fs frameshift loss of function - predicted TP53 Y103fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 103 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Y103fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of Y103 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.