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Gene Symbol CBLC
Synonyms CBL-3 | CBL-SL | RNF57
Gene Description CBLC, Cbl proto-oncogene C, is an ubiquitin ligase that targets activated receptor kinases for degradation (PMID: 10362357). Overexpression of Cblc has been observed in non-small cell lung cancer (PMID: 29945960), mutations have been identified in myeloproliferative neoplasms (PMID: 22315494), and Cblc may modulate response to PARP inhibitors (PMID: 25883215).
NCBI Gene ID Chromosome Map Location Canonical Transcript
23624 19 19q13.32 NM_012116

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A191T missense unknown CBLC A191T lies within the Cbl-PTB domain and EF-hand-like region of the Cblc protein (UniProt.org). A191T has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
A232Gfs*14 frameshift loss of function CBLC A232Gfs*14 indicates a shift in the reading frame starting at amino acid 232 and terminating 14 residues downstream causing a premature truncation of the 474 amino acid Cblc protein (UniProt.org). A232Gfs*14 does not interfere with recruitment of Cbl, but demonstrates impaired ability to ubiquitinate and downregulate Egfr in cell culture (PMID: 31260484).
A398V missense unknown CBLC A398V lies within the RET-interacting region of the Cblc protein (UniProt.org). A398V has been identified in sequencing studies (PMID: 26928463, PMID: 22395615), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
A64T missense unknown CBLC A64T lies within the Cbl-PTB domain and 4H region of the Cblc protein (UniProt.org). A64T has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
A6T missense unknown CBLC A6T does not lie within any known functional domains of the Cblc protein (UniProt.org). A6T has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
A6V missense unknown CBLC A6V does not lie within any known functional domains of the Cblc protein (UniProt.org). A6V has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
D318N missense unknown CBLC D318N lies within the Cbl-PTB domain and SH2-like region of the Cblc protein (UniProt.org). D318N has been identified in sequencing studies (PMID: 25240281), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
dec exp none no effect CBLC dec exp indicates decreased expression of the Cblc protein. However, the mechanism causing the decreased expression is unspecified.
E14K missense unknown CBLC E14K lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). E14K has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
E162K missense unknown CBLC E162K lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). E162K has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
E186K missense unknown CBLC E186K lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). E186K has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
E356K missense unknown CBLC E356K lies within the RET-interacting region of the Cblc protein (UniProt.org). E356K has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
E392K missense no effect - predicted CBLC E392K lies within the RET-interacting region of the Cblc protein (UniProt.org). E392K supports cell proliferation to similar levels of wild-type Cblc protein in culture (PMID: 22315494) and therefore, is predicted to have no effect on Cblc protein function.
E88D missense unknown CBLC E88D lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). E88D has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
F111L missense unknown CBLC F111L lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). F111L has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
F214Sfs*65 frameshift unknown CBLC F214Sfs*65 indicates a shift in the reading frame starting at amino acid 214 and terminating 65 residues downstream causing a premature truncation of the 474 amino acid Cblc protein (UniProt.org). F214Sfs*65 has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
G141R missense unknown CBLC G141R lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). G141R has not been characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
G165R missense unknown CBLC G165R lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). G165R has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Apr 2016).
G259C missense unknown CBLC G259C lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). G259C has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
G312E missense unknown CBLC G312E lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). G312E has not been characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
G395D missense unknown CBLC G395D lies within the RET-interacting region of the Cblc protein (UniProt.org). G395D has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
G467* nonsense unknown CBLC G467* results in a premature truncation of the Cblc protein at amino acid 467 of 474 (UniProt.org). G467* has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
G72S missense unknown CBLC G72S lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). G72S has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Apr 2016).
H136L missense unknown CBLC H136L lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). H136L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
H235P missense unknown CBLC H235P lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). H235P has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
H405Y missense unknown CBLC H405Y lies within the RET-interacting region of the Cblc protein (UniProt.org). H405Y has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
I126L missense unknown CBLC I126L lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). I126L has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
I284Tfs*37 frameshift unknown CBLC I284Tfs*37 indicates a shift in the reading frame starting at amino acid 284 and terminating 37 residues downstream causing a premature truncation of the 474 amino acid Cblc protein (UniProt.org). I284Tfs*37 has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
inact mut unknown loss of function CBLC inact mut indicates that this variant results in a loss of function of the CBLC protein. However, the specific amino acid change has not been identified.
K143N missense unknown CBLC K143N lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). K143N has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
L178F missense unknown CBLC L178F lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). L178F has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
L442V missense unknown CBLC L442V lies within the RET-interacting region of the Cblc protein (UniProt.org). L442V has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
M131I missense unknown CBLC M131I lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). M131I has been identified in sequencing studies (PMID: 24686850), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
M148L missense unknown CBLC M148L lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). M148L has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
M148R missense unknown CBLC M148R lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). M148R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
mutant unknown unknown CBLC mutant indicates an unspecified mutation in the CBLC gene.
over exp none no effect CBLC over exp indicates an over expression of the Cblc protein. However, the mechanism causing the over expression is unspecified.
P100S missense unknown CBLC P100S lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). P100S has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
P310L missense unknown CBLC P310L lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). P310L has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
P35S missense unknown CBLC P35S lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). P35S has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
P430L missense unknown CBLC P430L lies within the RET-interacting region of the Cblc protein (UniProt.org). P430L has been identified in sequencing studies (PMID: 25320358), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
P434L missense unknown CBLC P434L lies within the RET-interacting region of the Cblc protein (UniProt.org). P434L has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
P435S missense no effect - predicted CBLC P435S lies within the RET-interacting region of the Cblc protein (UniProt.org). P435S supports cell proliferation to similar levels of wild-type Cblc protein in culture (PMID: 22315494) and therefore, is predicted to have no effect on Cblc protein function.
P444L missense unknown CBLC P444L lies within the RET-interacting region of the Cblc protein (UniProt.org). P444L has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
P463A missense unknown CBLC P463A lies within the RET-interacting region of the Cblc protein (UniProt.org). P463A has not been characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
P473S missense unknown CBLC P473S lies within the RET-interacting region of the Cblc protein (UniProt.org). P473S has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
Q384K missense unknown CBLC Q384K lies within the RET-interacting region of the Cblc protein (UniProt.org). Q384K has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
Q419Pfs*81 frameshift no effect - predicted CBLC Q419Pfs*81 indicates a shift in the reading frame starting at amino acid 419 and terminating 81 residues downstream causing a premature truncation of the 474 amino acid Cblc protein (UniProt.org). Q419Pfs*81 supports cell proliferation to similar level of wild-type Cblc protein in culture (PMID: 22315494) and therefore, is predicted to have no effect on Cblc protein function.
R104K missense unknown CBLC R104K lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). R104K has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
R104N missense unknown CBLC R104N lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). R104N has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
R119Q missense unknown CBLC R119Q lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). R119Q has not been characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
R167G missense unknown CBLC R167G lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). R167G has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
R20Q missense unknown CBLC R20Q lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). R20Q has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
R269C missense unknown CBLC R269C lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). R269C has not been characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
R390H missense unknown CBLC R390H lies within the RET-interacting region of the Cblc protein (UniProt.org). R390H has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
R56* nonsense loss of function - predicted CBLC R56* results in a premature truncation of the Cblc protein at amino acid 56 of 474 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R56* is predicted to lead to a loss of Cblc protein function.
R63W missense unknown CBLC R63W lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). R63W has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
S381L missense unknown CBLC S381L lies within the RET-interacting region of the Cblc protein (UniProt.org). S381L has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
S400Vfs*55 frameshift unknown CBLC S400Vfs*55 indicates a shift in the reading frame starting at amino acid 400 and terminating 55 residues downstream causing a premature truncation of the 474 amino acid Cblc protein (UniProt.org). S400Vfs*55 has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
S43L missense unknown CBLC S43L lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). S43L has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
S76Y missense unknown CBLC S76Y lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). S76Y has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
T197del deletion unknown CBLC T197del results in the deletion of one amino acid in the Cbl-PTB domain of the Cblc protein at amino acid 197 (UniProt.org). T197del has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
T215P missense unknown CBLC T215P lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). T215P has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
T385I missense unknown CBLC T385I lies within the RET-interacting region of the Cblc protein (UniProt.org). T385I has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
V213L missense unknown CBLC V213L lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). V213L has not been characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
V247A missense unknown CBLC V247A lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). V247A has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
V247I missense unknown CBLC V247I lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). V247I has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
V247L missense unknown CBLC V247L lies within the Cbl-PTB domain of the Cblc protein (UniProt.org). V247L has not been characterized and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
V361A missense unknown CBLC V361A lies within the RET-interacting region of the Cblc protein (UniProt.org). V361A has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
W378* nonsense unknown CBLC W378* results in a premature truncation of the Cblc protein at amino acid 378 of 474 (UniProt.org). W378* has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
W378C missense unknown CBLC W378C lies within the RET-interacting region of the Cblc protein (UniProt.org). W378C has not been characterized in the scientific literature and therefore, its effect on Cblc protein function is unknown (PubMed, Jul 2019).
Y341C missense loss of function CBLC Y341C lies within the linker region of the Cblc protein (UniProt.org). Y341C interferes with recruitment of Cbl and demonstrates impaired ability to ubiquitinate and downregulate Egfr in cell culture (PMID: 31260484).