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Gene Symbol NOTCH1
Synonyms AOS5 | AOVD1 | hN1 | TAN1
Gene Description NOTCH1, notch receptor 1, is one of four Notch transmembrane receptors, that bind Delta or Jagged ligands (PMID: 30289388), and plays a role in cell fate determination, growth, survival (PMID: 25388163) and chemoresistance (PMID: 29998084). Activating Notch1 mutations are common in T-cell lymphoblastic leukemia/lymphoma (PMID: 22006338, PMID: 30103821), chronic lymphocytic leukemia (PMID: 29998084) and amplification and/or overexpression has been observed in bladder (PMID: 29643502), colorectal (PMID: 30136202, PMID: 30043645, PMID: 32211044), and gastric cancers (PMID: 30043645).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function NOTCH1 act mut indicates that this variant results in a gain of function in the Notch1 protein. However the specific amino acid change has not been identified.
inact mut unknown loss of function NOTCH1 inact mut indicates that this variant results in a loss of function of the Notch1 protein.
mutant unknown unknown NOTCH1 mutant indicates an unspecified mutation in the NOTCH1 gene.
rearrange unknown unknown NOTCH1 rearrange indicates an unspecified rearrangement of the NOTCH1 gene.
A2256fs frameshift unknown NOTCH1 A2256fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2256 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). A2256fs has been identified in the scientific literature (PMID: 25564152), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown.
A2441fs frameshift unknown NOTCH1 A2441fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2441 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). A2441fs has not been characterized individually, however, cells harboring both A2441fs and L1574P demonstrated constitutive Notch signaling in culture (PMID: 17646409).
A2463fs frameshift unknown NOTCH1 A2463fs results in a change in the amino acid sequence of the Notch1 protein beginning at 2463 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). A2463fs has been identified in sequencing studies (PMID: 19794083, PMID: 29928447), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Apr 2020).
C344fs frameshift loss of function - predicted NOTCH1 C344fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 344 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), C344fs is predicted to lead to a loss of Notch1 protein function.
D1815fs frameshift loss of function - predicted NOTCH1 D1815fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 1815 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of the cytoplasmic domain (UniProt.org), D1815fs is predicted to lead to a loss of Notch1 protein function.
G115fs frameshift loss of function - predicted NOTCH1 G115fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 115 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), G115fs is predicted to lead to a loss of Notch1 protein function.
H2018fs frameshift unknown NOTCH1 H2018fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2018 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). H2018fs has been identified in the scientific literature (PMID: 30770351), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Jun 2020).
H2428fs frameshift gain of function - predicted NOTCH1 H2428fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2428 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). H2428fs is predicted to confer a gain of function to the Notch1 protein, as demonstrated by stabilization of the NOTCH intracellular domain and activation of the NOTCH pathway (PMID: 17646409).
H562fs frameshift loss of function - predicted NOTCH1 H562fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 562 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), H562fs is predicted to lead to a loss of Notch1 protein function.
P1442fs frameshift loss of function - predicted NOTCH1 P1442fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 1442 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), P1442fs is predicted to lead to a loss of Notch1 protein function.
P2438fs frameshift unknown NOTCH1 P2438fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2438 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2438fs is associated with increased copy number of the NOTCH1 gene in patient tumor samples (PMID: 25564152), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Jun 2020).
P2462fs frameshift gain of function - predicted NOTCH1 P2462fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2462 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2462fs has not been characterized, however, due to the effects of other PEST domain deletions downstream of P2462 (PMID: 16614245, PMID: 16738328), P2462fs is predicted to lead to activation of Notch1 signaling and is associated with increased copy number of the NOTCH1 gene in patient tumor samples (PMID: 25564152).
P2475fs frameshift gain of function - predicted NOTCH1 P2475fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2475 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2475fs is predicted to confer a gain of function to the Notch1 protein, as demonstrated by stabilization of the Notch intracellular domain and activation of the Notch pathway (PMID: 17646409).
P2493fs frameshift unknown NOTCH1 P2493fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2493 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2493fs (reported as P2493fs*100) results in constitutive Notch signaling when combined with L1574P in culture (PMID: 17646409), but has not been characterized individually and therefore, its effect on Notch1 protein function is unknown (PubMed, Apr 2020).
P2514fs frameshift unknown NOTCH1 P2514fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2514 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2514fs expressed with L1600P demonstrates constitutive Notch signaling in culture (PMID: 17646409), but has not been characterized individually and therefore, its effect on Notch1 protein function unknown (PubMed, Jun 2020).
S2329fs frameshift unknown NOTCH1 S2329fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2329 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). S2329fs has been identified in sequencing studies (PMID: 27683183), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
S2449fs frameshift gain of function - predicted NOTCH1 S2449fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2449 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). S2449fs has not been characterized, however, due to the effects of other PEST domain deletion downstream of S2449 (PMID: 15472075), S2449fs is predicted to lead to activation of Notch1 signaling.
S2467fs frameshift unknown NOTCH1 S2467fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2467 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). S2467fs does not result in statistically significant increase of Notch1 signaling in a reporter assay (PMID: 27870570), but has not been fully characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Mar 2020).
T561fs frameshift loss of function - predicted NOTCH1 T561fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 561 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the intracellular domain (UniProt.org), T561fs is predicted to lead to a loss of Notch1 protein function.
V2443fs frameshift unknown NOTCH1 V2443fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2443 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). V2443fs has not been characterized individually, however, cells harboring both V2443fs (reported as V2443fs*34) and L1593P demonstrated constitutive Notch signaling in culture (PMID: 17646409) and therefore, the effect of V2443fs on Notch1 protein function is unknown.
V489fs frameshift loss of function - predicted NOTCH1 V489fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 1442 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), V489fs is predicted to lead to a loss of Notch1 protein function.