CIViC Variants

1951 variants indexed

Variant Types

Sequence Ontology (SO) terms describing the molecular consequence of each variant, as curated in CIViC. Hover a bar for the definition.

CIViC ID	Gene	Variant	HGVS	Type(s)
2387	CSF3R	T618I THR618ILE	NP_724781.1:p.Thr618Ile,NM_156039.3:c.1853C>T,ENST00000373103.1:c.1853G>A,NC_000001.10:g.36933434G>A,NC_000001.11:g.36467833G>A	missense_variant
5254	CTAG1B	Expression
1273	CTAG1B	Overexpression
1274	CTAG2	Overexpression
3745	CTCF	K365T
599	CTLA4::CD28	Fusion CTLA4-CD28		transcript_fusion
1296	CTNNB1	Activating Mutation		gain_of_function_variant,transcript_variant
2892	CTNNB1	Exon 3 Mutation
1286	CTNNB1	S45F SER45PHE,RS121913409	NM_001904.3:c.134C>T,NP_001895.1:p.Ser45Phe,NC_000003.11:g.41266137C>T,ENST00000349496.5:c.134C>T	missense_variant
1287	CTNNB1	S45P SER45PRO,RS121913407	NM_001904.3:c.133T>C,NP_001895.1:p.Ser45Pro,NC_000003.11:g.41266136T>C,ENST00000349496.5:c.133T>C	missense_variant
1285	CTNNB1	T41A THR41ALA,RS121913412	NM_001904.3:c.121A>G,NP_001895.1:p.Thr41Ala,NC_000003.11:g.41266124A>G,ENST00000349496.5:c.121A>G	missense_variant
5248	CUL3	Mutation
2229	CUX1::BRAF	Fusion CUX1-BRAF		transcript_fusion
405	CXCR4	EXPRESSION
721	CYP2D6	Loss-of-function		loss_of_function_variant
1284	DCC	EXPRESSION
4495	DCTN1::ALK	Fusion DCTN1-ALK		transcript_fusion
141	DDR2	G253C GLY253CYS	ENST00000367922.3:c.757G>T,NC_000001.10:g.162729671G>T	missense_variant
142	DDR2	G505S GLY505SER,RS115169993	NM_006182.2:c.1513G>A,NP_006173.2:p.Gly505Ser,ENST00000367922.3:c.1513G>A,NC_000001.10:g.162741822G>A	missense_variant
144	DDR2	G774V GLY774VAL	ENST00000367922.3:c.2321G>T,NC_000001.10:g.162748407G>T	missense_variant
143	DDR2	I638F ILE638PHE,RS1057519789	ENST00000367922.3:c.1912A>T,NC_000001.10:g.162745497A>T,NM_001014796.1:c.1912A>T,NP_001014796.1:p.Ile638Phe	missense_variant
140	DDR2	L239R LEU239ARG	ENST00000367922.3:c.716T>G,NC_000001.10:g.162729630T>G	missense_variant
139	DDR2	L63V LEU63VAL	NM_006182.2:c.187C>G,NP_006173.2:p.Leu63Val,ENST00000367922.3:c.187C>G,NC_000001.10:g.162724415C>G	missense_variant
145	DDR2	S768R SER768ARG	ENST00000367922.3:c.2304T>A,NC_000001.10:g.162748390T>A	missense_variant
2394	DDR2::NTRK1	Fusion NTRK1-DDR2		transcript_fusion
814	DDX41	R164W		missense_variant
481	DDX43	Overexpression
328	DEFA1	EXPRESSION
5010	DEK::NUP214	Fusion DEK-NUP214		transcript_fusion
2196	DICER1	D1709E
2195	DICER1	D1709G
2051	DICER1	D1709N
2050	DICER1	E1705K GLU1705LYS	ENST00000526495.1:c.5113G>A	missense_variant
2052	DICER1	E1813Q GLU1813GLN	ENST00000526495.1:c.5437G>C	missense_variant
340	DKK1	NUCLEAR EXPRESSION
31	DNAJB1::PRKACA	Fusion DNAJB1-PRKACA		transcript_fusion
335	DNMT1	EXPRESSION
189	DNMT3A	Mutation		transcript_variant
32	DNMT3A	R882 R693,ARG882,ARG693		missense_variant
738	DPYD	DPYD*13 HOMOZYGOSITY RS55886062,ILE560SER,I560S	NM_000110.3:c.1679T>G,NP_000101.2:p.Ile560Ser,ENST00000370192.3:c.1679T>G,NC_000001.10:g.97981343A>C	missense_variant
737	DPYD	DPYD2A HOMOZYGOSITY RS3918290,DPYD2A,DPYD:IVS14 + 1G>A,C.1905+1G>A	NC_000001.10:g.97915614C>T,NM_000110.3:c.1905+1G>A,ENST00000370192.3:c.1905+1G>A	splice_donor_variant
2893	DPYD	EXON 11-19 DELETION		inframe_deletion
740	DPYD	RS67376798 HOMOZYGOSITY C.2846A>T,P.ASP949VAL,N949V		polymorphic_sequence_variant
398	DUSP6	EXPRESSION
524	DUX4::v	Fusion DUX4 Fusion		transcript_fusion
2847	EBF1::JAK2	Fusion EBF1-JAK2		transcript_fusion
535	EBF1::PDGFRB	Fusion EBF1-PDGFRB		transcript_fusion
492	ECSCR	EXPRESSION
4778	EEF1G::ROS1	Fusion EEF1G-ROS1		transcript_fusion
342	EGF	EXPRESSION

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