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Gene Symbol SRC
Synonyms ASV | c-SRC | p60-Src | SRC1 | THC6
Gene Description SRC, SRC proto-oncogene, non-receptor tyrosine kinase, is a member of mutliple signaling pathways, playing a role in a variety of cellular processes including proliferation, differentiation, survival, motility, and angiogenesis (PMID: 19581523). Activation and/or overexpression of SRC has been observed in many cancers (PMID: 24788409), and SRC activating mutations, although rare, have been identified in colon cancer (PMID: 9988270, PMID: 19581523).
NCBI Gene ID Chromosome Map Location Canonical Transcript
6714 20 20q11.23 NM_198291

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A91V missense unknown SRC A91V lies within the SH3 domain of the Src protein (UniProt.org). A91V has not been characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
act mut unknown gain of function SRC act mut indicates that this variant results in a gain of function in the Src protein. However, the specific amino acid change has not been identified.
amp none no effect SRC amplification indicates an increased number of copies of the SRC gene. However, the mechanism causing the increase is unspecified.
C501R missense unknown SRC C501R lies within the protein kinase domain of the Src protein (UniProt.org). C501R has not been characterized in the scientific literature and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
D120N missense unknown SRC D120N lies within the SH3 domain of the Src protein (UniProt.org). D120N results in an open conformation in an in vitro assay (PMID: 31287657), but has not been fully biochemically characterized and therefore, its effect on Src protein function is unknown.
D351N missense unknown SRC D351N lies within the protein kinase domain of the Src protein (UniProt.org). D351N has been identified in the scientific literature (PMID: 30004690), but has not been biochemically characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
D389E missense unknown SRC D389E lies within the protein kinase domain of the Src protein (UniProt.org). D389E has been identified in the scientific literature (PMID: 30004690), but has not been biochemically characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
D407H missense loss of function - predicted SRC D407H lies within the protein kinase domain of the Src protein (UniProt.org). D407H stabilizes an open conformation of the protein kinase domain, but results in a loss of kinase activity in in vitro assays (PMID: 31287657), and therefore is predicted to lead to a loss of Src protein function.
D407N missense unknown SRC D407N lies within the protein kinase domain of the Src protein (UniProt.org). D407N (D404N in chicken) results in increased peptide substrate affinity, but reduced ATP binding (PMID: 25600932), and leads to stabilized open conformation in in vitro assays (PMID: 31287657), and therefore, its effect on Src protein function is unknown.
D521N missense unknown SRC D521N lies within the protein kinase domain of the Src protein (UniProt.org). D521N demonstrates a similar kinase domain conformation to wild-type Src (PMID: 31287657), but has not been fully biochemically characterized and therefore, its effect on Src protein function is unknown.
D521W missense unknown SRC D521W lies within the protein kinase domain of the Src protein (UniProt.org). D521W demonstrates a similar kinase domain conformation to wild-type Src (PMID: 31287657), but has not been fully biochemically characterized and therefore, its effect on Src protein function is unknown.
E342K missense unknown SRC E342K lies within the protein kinase domain of the Src protein (UniProt.org). E342K has not been characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
E527K missense gain of function SRC E527K does not lie within any known functional domains of the Src protein (UniProt.org). E527K results in resistance of Src to phosphorylation and inactivation by CSK, increased Src kinase activity and phosphorylation in culture, leading to blood and bone pathologies in animal models (PMID: 7592628, PMID: 26936507), and is associated with drug resistance in culture (PMID: 25350844). Y
F408A missense loss of function - predicted SRC F408A lies within the protein kinase domain of the Src protein (UniProt.org). F408A results in a closed protein conformation and reduced catalytic activity in in vitro assays (PMID: 31287657), and therefore, is predicted to lead to a loss of Src protein function.
F408G missense loss of function - predicted SRC F408G lies within the protein kinase domain of the Src protein (UniProt.org). F408G demonstrates a similar kinase domain conformation to wild-type Src, and a loss of catalytic activity in in vitro assays (PMID: 31287657), and therefore, is predicted to lead to a loss of Src protein function.
G133C missense unknown SRC G133C lies within the SH3 domain of the Src protein (UniProt.org). G133C has not been characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
G347E missense unknown SRC G347E lies within the protein kinase domain of the Src protein (UniProt.org). G347E has been identified in the scientific literature (PMID: 30004690, PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
I113F missense unknown SRC I113F lies within the SH3 domain of the Src protein (UniProt.org). I113F demonstrates a similar kinase domain conformation to wild-type Src (PMID: 31287657), but has not been fully biochemically characterized and therefore, its effect on Src protein function is unknown.
I339W missense unknown SRC I339W lies within the protein kinase domain of the Src protein (UniProt.org). I339W demonstrates a similar kinase domain conformation to wild-type Src (PMID: 31287657), but has not been fully biochemically characterized and therefore, its effect on Src protein function is unknown.
K155R missense unknown SRC K155R lies within the SH2 domain of the Src protein (UniProt.org). K155R results in similar sumoylation to wild-type Src in cell culture (PMID: 29069627), however, has not been fully biochemically characterized, and therefore, its effect on Src protein function is unknown.
K184R missense unknown SRC K184R lies within the SH2 domain of the Src protein (UniProt.org). K184R demonstrates similar sumoylation to wild-type Src in cell culture (PMID: 29069627), however, has not been fully biochemically characterized, and therefore, its effect on Src protein function is unknown.
K198R missense unknown SRC K198R lies within the SH2 domain of the Src protein (UniProt.org). K198R demonstrates similar sumoylation to wild-type Src in cell culture (PMID: 29069627), however, has not been fully biochemically characterized, and therefore, its effect on Src protein function is unknown.
K298E missense loss of function - predicted SRC K298E lies within the protein kinase domain of the Src protein (UniProt.org). K298E results in a closed protein conformation and reduced catalytic activity in in vitro assays (PMID: 31287657), and therefore, is predicted to lead to a loss of Src protein function.
K298M missense loss of function SRC K298M lies within the protein kinase domain of the Src protein (UniProt.org). K298M results in an open protein conformation in an in vitro assay (PMID: 31287657), and results in decreased proliferation and kinase activity in cell culture (PMID: 16415104, PMID: 18698806).
K298R missense loss of function SRC K298R lies within the protein kinase domain of the Src protein (UniProt.org). K298R results in a closed protein conformation and reduced catalytic activity in in vitro assays (PMID: 31287657), and impaired formation of large cytoplasmic vesicles relative to wild-type Src in cultured cells (PMID: 17167779).
K318R missense gain of function SRC K318R lies within the protein kinase domain of the Src protein (UniProt.org). K318R results in the loss of sumoylation compared to wild-type Src in culture, however, results in increased colony formation, cell migration, and tumor formation in animal models (PMID: 29069627).
K319R missense unknown SRC K319R lies within the protein kinase domain of the Src protein (UniProt.org). K319R results in similar sumoylation to wild-type Src in cell culture (PMID: 29069627), however, has not been fully biochemically characterized, and therefore, its effect on Src protein function is unknown.
K40R missense unknown SRC K40R does not lie within any known functional domains of the Src protein (UniProt.org). K40R results in similar sumoylation to wild-type Src in cell culture (PMID: 29069627), however, has not been fully biochemically characterized, and therefore, its effect on Src protein function is unknown.
K5R missense loss of function SRC K5R lies within the unique domain loop of the Src protein (PMID: 29531159). K5R results in the loss of ability to transform cells as demonstrated by reduced colony formation compared to wild-type Src in culture and decreased tumor growth in animal models (PMID: 29531159).
K7R missense loss of function SRC K7R lies within the unique domain loop of the Src protein (PMID: 29531159). K7R results in the loss of ability to transform cells as demonstrated by reduced colony formation compared to wild-type Src in culture and decreased tumor growth in animal models (PMID: 29531159).
K9R missense loss of function SRC K9R lies within the unique domain loop of the Src protein (PMID: 29531159). K9R results in the loss of ability to transform cells as demonstrated by reduced colony formation compared to wild-type Src in culture and decreased tumor growth in animal models (PMID: 29531159).
L320I missense unknown SRC L320I lies within the protein kinase domain of the Src protein (UniProt.org). L320I demonstrates a similar kinase domain conformation to wild-type Src (PMID: 31287657), but has not been fully biochemically characterized and therefore, its effect on Src protein function is unknown.
mutant unknown unknown SRC mutant indicates an unspecified mutation in the SRC gene.
over exp none no effect SRC over exp indicates an over expression of the Src protein. However, the mechanism causing the over expression is not specified.
P136S missense unknown SRC P136S lies within the SH3 domain of the Src protein (UniProt.org). P136S has not been characterized in the scientific literature and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
P171Q missense unknown SRC P171Q lies within the SH2 domain of the Src protein (UniProt.org). P171Q demonstrates a similar kinase domain conformation to wild-type Src (PMID: 31287657), but has not been fully biochemically characterized and therefore, its effect on Src protein function is unknown.
P171R missense unknown SRC P171R lies within the SH2 domain of the Src protein (UniProt.org). P171R has not been characterized in the scientific literature and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
P307R missense loss of function - predicted SRC P307R lies within the protein kinase domain of the Src protein (UniProt.org). P307R results in a closed protein conformation and reduced catalytic activity in in vitro assays (PMID: 31287657), and therefore, is predicted to lead to a loss of Src protein function.
P428S missense unknown SRC P428S lies within the protein kinase domain of the Src protein (UniProt.org). P428S has been identified in the scientific literature (PMID: 30004690), but has not been biochemically characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
P506L missense unknown SRC P506L lies within the protein kinase domain of the Src protein (UniProt.org). P506L has been identified in sequencing studies (PMID: 24265154), but has not been biochemically characterized and therefore, its effect on Src protein function is unknown (PubMed, Jan 2020).
positive unknown unknown SRC positive indicates the presence of the SRC gene, mRNA, and/or protein.
Q256fs frameshift loss of function - predicted SRC Q256fs results in a change in the amino acid sequence of the Src protein beginning at aa 256 of 536, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of protein kinase domain (UniProt.org), Q256fs is predicted to lead to a loss of Src protein function.
Q529H missense loss of function - predicted SRC Q529H does not lie within any known functional domains of the Src protein (UniProt.org). Q529H results in a closed protein conformation and reduced catalytic activity in in vitro assays (PMID: 31287657), and therefore, is predicted to lead to a loss of Src protein function.
Q531* nonsense gain of function SRC Q531* results in a premature truncation of the Src protein at amino acid 531 of 536 (UniProt.org). Q531* confers a gain of function on the Src protein as demonstrated by increased Src kinase activity compared to wild-type Src, transformation of cultured cells, increased cell invasion, and tumor metastasis in animal models (PMID: 9988270).
R163W missense unknown SRC R163W lies within the SH2 domain of the Src protein (UniProt.org). R163W results in an open conformation of the kinase domain (PMID: 31287657), but has not been fully biochemically characterized and therefore, its effect on Src protein function is unknown (PubMed, Mar 2020).
R220S missense unknown SRC R220S lies within the SH2 domain of the Src protein (UniProt.org). R220S has not been characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
R483W missense unknown SRC R483W lies within the protein kinase domain of the Src protein (UniProt.org). R483W has been identified in the scientific literature (PMID: 30004690), but has not been biochemically characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
R98W missense gain of function SRC R98W lies within the SH3 domain of the Src protein (UniProt.org). R98W (R95W in yeast) reduces the inhibitory effects of Csk in a yeast assay (PMID: 7687537), and results in an open conformation and maintenance of kinase activity even in the context of inhibitory phosphorylation by the Csk protein in an in vitro assay (PMID: 31287657).
S225I missense unknown SRC S225I lies within the SH2 domain of the Src protein (UniProt.org). S225I has not been characterized in the scientific literature and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
S269L missense unknown SRC S269L does not lie within any known functional domains of the Src protein (UniProt.org). S269L has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
T183M missense unknown SRC T183M lies within the SH2 domain of the Src protein (UniProt.org). T183M has not been characterized in the scientific literature and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
T341G missense loss of function - predicted SRC T341G lies within the protein kinase domain of the Src protein (UniProt.org). T341G results in a closed protein conformation and reduced catalytic activity in in vitro assays (PMID: 31287657), and therefore, is predicted to lead to a loss of Src protein function.
T341I missense gain of function SRC T341I lies within the protein kinase domain of the Src protein (UniProt.org). T341I results in increased Src autophosphorylation, substrate phosphorylation, and cell survival in culture (PMID: 18794843, PMID: 29930727) and demonstrates resistance to Src inhibition in cell culture (PMID: 29930727, PMID: 19098899). Y
T341M missense gain of function SRC T341M lies within the protein kinase domain of the Src protein (UniProt.org). T341M results in increased Src autophosphorylation and substrate phosphorylation, increased cell survival in culture (PMID: 18794843), and is associated with resistance to Src inhibition (PMID: 27222538, PMID: 15157880). Y
T341R missense loss of function - predicted SRC T341R lies within the protein kinase domain of the Src protein (UniProt.org). T341R results in a closed protein conformation and reduced catalytic activity in vitro assays (PMID: 31287657), and therefore, is predicted to lead to a loss of Src protein function.
V140M missense unknown SRC V140M lies within the SH3 domain of the Src protein (UniProt.org). V140M demonstrates a similar kinase domain conformation to wild-type Src (PMID: 31287657), but has not been fully biochemically characterized and therefore, its effect on Src protein function is unknown.
W121C missense unknown SRC W121C lies within the SH3 domain of the Src protein (UniProt.org). W121C has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
W121R missense gain of function SRC W121R lies within the SH3 domain of the Src protein (UniProt.org). W121R results in an open conformation of the kinase domain, increased catalytic activity, and insensitivity to inhibitory phosphorylation by Csk in in vitro assays (PMID: 31287657).
W263A missense loss of function - predicted SRC W263A does not lie within any known functional domain of the Src protein (UniProt.org). W263A results in an open conformation of the kinase domain, but results in reduced catalytic activity of the protein in an in vitro assay (PMID: 31287657), and therefore, is predicted to lead to a loss of Src protein function.
wild-type none no effect Wild-type SRC indicates that no mutation has been detected within the Src gene.
Y419F missense loss of function SRC Y419F lies within the protein kinase domain of the Src protein (UniProt.org). Y419F (corresponds to Y416 in chicken) results in a loss of Src protein function as demonstrated by reduced MAPK signaling and impaired Src dependent differentiation (PMID: 18063684), a failure to inhibit Sumoylation in response to hypoxia (PMID: 29069627), and inability to downregulate miR-218 in cultured cells (PMID: 25940608).
Y530* nonsense unknown SRC Y530* results in a premature truncation of the Src protein at amino acid 530 of 536 (UniProt.org). Y530* has not been characterized in the scientific literature and therefore, its effect on Src protein function is unknown (PubMed, Nov 2019).
Y530F missense gain of function SRC Y530F lies within the protein kinase domain of the Src protein (UniProt.org). Y530F results in a gain of Src protein function as demonstrated by increased phosphorylation of Stat3 and Cav1 in cultured cells (PMID: 12748308), and increased Shc-Src complex kinase activity in an in vitro assay (PMID: 8702633).