ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
9-90113997-C-A	ENST00000408954	p.Thr2Asn	Missense Variant	0	0	0	rs1264912718
9-90113997-C-A	ENST00000472284	p.Thr2Asn	Missense Variant	0	0	0	rs1264912718
9-90113998-C-T	ENST00000408954	p.Thr2Thr	Synonymous Variant	0	0	0	rs758304973
9-90113998-C-T	ENST00000472284	p.Thr2Thr	Synonymous Variant	0	0	0	rs758304973
9-90113999-G-A	ENST00000408954	p.Val3Met	Missense Variant	0	0	0	rs779739080
9-90113999-G-A	ENST00000472284	p.Val3Met	Missense Variant	0	0	0	rs779739080
9-90114016-C-A	ENST00000408954	p.Asn8Lys	Missense Variant	0	0	0	rs569339922
9-90114016-C-A	ENST00000472284	p.Asn8Lys	Missense Variant	0	0	0	rs569339922
9-90114016-C-T	ENST00000408954	p.Asn8Asn	Synonymous Variant	5	31314	0.00016	rs569339922
9-90114016-C-T	ENST00000472284	p.Asn8Asn	Synonymous Variant	5	31314	0.00016	rs569339922
9-90114017-G-A	ENST00000408954	p.Val9Met	Missense Variant	0	0	0	rs748611690
9-90114017-G-A	ENST00000472284	p.Val9Met	Missense Variant	0	0	0	rs748611690
9-90114020-G-A	ENST00000408954	p.Asp10Asn	Missense Variant	1	31332	0.000032	rs770022301
9-90114020-G-A	ENST00000472284	p.Asp10Asn	Missense Variant	1	31332	0.000032	rs770022301
9-90114024-A-T	ENST00000408954	p.Asp11Val	Missense Variant	0	0	0	rs1362202422
9-90114024-A-T	ENST00000472284	p.Asp11Val	Missense Variant	0	0	0	rs1362202422
9-90114025-T-C	ENST00000408954	p.Asp11Asp	Synonymous Variant	5	31276	0.00016	rs200015695
9-90114025-T-C	ENST00000472284	p.Asp11Asp	Synonymous Variant	5	31276	0.00016	rs200015695
9-90114028-C-T	ENST00000408954	p.Tyr12Tyr	Synonymous Variant	1	31332	0.000032	rs1167382711
9-90114028-C-T	ENST00000472284	p.Tyr12Tyr	Synonymous Variant	1	31332	0.000032	rs1167382711

Showing 1 to 20 of 2,424 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
DAPK1	P53355	Phosphorylation	1053	T1053-p	GKLLSVEtPRALHHy	160.05	56655406
DAPK1	P53355	Phosphorylation	1060	Y1060-p	tPRALHHyRGRYTVE	160.05	23097632
DAPK1	P53355	Phosphorylation	1115	S1115-p	KTDNLHRsWADEEDE	160.05	4748650
DAPK1	P53355	Phosphorylation	112	T112-p	LAEKESLtEEEATEF	160.05	55373264
DAPK1	P53355	Phosphorylation	1266	T1266-p	RAQTLKEtsLtNTMG	160.05	23097626
DAPK1	P53355	Phosphorylation	1267	S1267-p	AQTLKEtsLtNTMGG	160.05	23097614
DAPK1	P53355	Phosphorylation	1269	T1269-p	TLKEtsLtNTMGGYK	160.05	23097629
DAPK1	P53355	Phosphorylation	15	T15-p	NVDDYYDtGEELGSG	160.05	55373260
DAPK1	P53355	Phosphorylation	289	S289-p	QALSRKAsAVNMEkF	160.05	457379
DAPK1	P53355	Acetylation	295	K295-ac	AsAVNMEkFkKFAAR	160.05	3740687
DAPK1	P53355	Acetylation	297	K297-ac	AVNMEkFkKFAARKK	160.05	3740692
DAPK1	P53355	Ubiquitination	306	K306-ub	FAARKKWkQsVRLIS	160.05	573765578
DAPK1	P53355	Phosphorylation	308	S308-p	ARKKWkQsVRLISLC	160.05	448142
DAPK1	P53355	Phosphorylation	319	S319-p	ISLCQRLsRsFLsRs	160.05	18261760
DAPK1	P53355	Phosphorylation	321	S321-p	LCQRLsRsFLsRsNM	160.05	40510158
DAPK1	P53355	Phosphorylation	324	S324-p	RLsRsFLsRsNMSVA	160.05	40510162
DAPK1	P53355	Phosphorylation	326	S326-p	sRsFLsRsNMSVARs	160.05	17550628
DAPK1	P53355	Phosphorylation	333	S333-p	sNMSVARsDDtLDEE	160.05	467720
DAPK1	P53355	Phosphorylation	336	T336-p	SVARsDDtLDEEDSF	160.05	4748645
DAPK1	P53355	Phosphorylation	39	Y39-p	EKSTGLQyAAKFIKK	160.05	477412

Showing 1 to 20 of 36 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
DAPK1	ENST00000408954	NPC0002PT00037T00037	upper_aerodigestive_tract	carcinoma	47405814	c.4037G>A	p.S1346N	Substitution - Missense	NEUTRAL	.03609	Reported in another cancer sample as somatic	PMID: 28851814	primary	1346
DAPK1	ENST00000408954	S01170_1	lung	carcinoma	47420752	c.2980G>T	p.D994Y	Substitution - Missense	PATHOGENIC	.97765	Confirmed somatic variant	PMID: 26168399	primary	994
DAPK1	ENST00000408954	GCTK_391_T	stomach	carcinoma	47420296	c.919-98A>G	p.?	Unknown	NEUTRAL	.13143	Confirmed somatic variant	PMID: N/A	primary	0
DAPK1	ENST00000408954	EV006-LN1a	kidney	carcinoma	47405173	c.356T>G	p.F119C	Substitution - Missense	PATHOGENIC	.9859	Confirmed somatic variant	PMID: 24487277	metastasis	119
DAPK1	ENST00000408954	98216	stomach	carcinoma	47406458	c.1996C>T	p.R666*	Substitution - Nonsense		.61844	Confirmed somatic variant	PMID: 24807215	primary	666
DAPK1	ENST00000408954	PD_03	skin	carcinoma	47420455	c.3781C>T	p.Q1261*	Substitution - Nonsense	PATHOGENIC	.99125	Confirmed somatic variant	PMID: 24662767	NS	1261
DAPK1	ENST00000408954	442-02-5TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	47411402	c.2225-238C>T	p.?	Unknown	NEUTRAL	.02283	Confirmed somatic variant	PMID: N/A	primary	0
DAPK1	ENST00000408954	TCGA-DD-A115-01	liver	carcinoma	47410330	c.1851G>A	p.A617=	Substitution - coding silent	NEUTRAL	.09925	Confirmed somatic variant	PMID: N/A	NS	617
DAPK1	ENST00000408954	PD_03	skin	carcinoma	47406038	c.2544C>T	p.I848=	Substitution - coding silent	PATHOGENIC	.80417	Confirmed somatic variant	PMID: 24662767	NS	848
DAPK1	ENST00000408954	A1-2A	large_intestine	carcinoma	47418421	c.3013G>A	p.E1005K	Substitution - Missense	PATHOGENIC	.91935	Confirmed somatic variant	PMID: N/A	primary	1005
DAPK1	ENST00000408954	2834136	skin	malignant_melanoma	47410248	c.2302G>T	p.G768C	Substitution - Missense	PATHOGENIC	.96094	Variant of unknown origin	PMID: 28296713	primary	768
DAPK1	ENST00000408954	J32_T	lung	carcinoma	47417024	c.1924-4606G>A	p.?	Unknown	NEUTRAL	.00487	Confirmed somatic variant	PMID: N/A	NS	0
DAPK1	ENST00000408954	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	47409986	c.2414-973A>G	p.?	Unknown	NEUTRAL	.01374	Confirmed somatic variant	PMID: N/A	primary	0
DAPK1	ENST00000408954	TCGA-VQ-A91U-01	stomach	carcinoma	47410394	c.1261C>T	p.R421W	Substitution - Missense	PATHOGENIC	.91831	Confirmed somatic variant	PMID: N/A	primary	421
DAPK1	ENST00000408954	DN14011	breast	carcinoma	47414674	c.63-19139T>C	p.?	Unknown	NEUTRAL	.02768	Confirmed somatic variant	PMID: N/A	primary	0
DAPK1	ENST00000408954	EV006-R15	kidney	carcinoma	47405173	c.356T>G	p.F119C	Substitution - Missense	PATHOGENIC	.9859	Confirmed somatic variant	PMID: 24487277	primary	119
DAPK1	ENST00000408954	HCA7	large_intestine	carcinoma	47412345	c.1936G>A	p.A646T	Substitution - Missense	PATHOGENIC	.8214	Variant of unknown origin	PMID: 24755471	NS	646
DAPK1	ENST00000408954	NPC0001PT00278T00278	upper_aerodigestive_tract	carcinoma	47405814	c.4037G>A	p.S1346N	Substitution - Missense	NEUTRAL	.03609	Reported in another cancer sample as somatic	PMID: 28851814	primary	1346
DAPK1	ENST00000408954	CPCG0183-F1	prostate	carcinoma	47410614	c.62+22407G>A	p.?	Unknown	NEUTRAL	.00543	Confirmed somatic variant	PMID: N/A	NS	0
DAPK1	ENST00000408954	8066067	pancreas	carcinoma	47415091	c.2871+993G>A	p.?	Unknown	NEUTRAL	.02214	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 2,758 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00531	Death	Death domain	1310-1396	CL0041	Death	Homo sapiens
PF00023	Ank	Ankyrin repeat	444-476	CL0465	Ank	Homo sapiens
PF00023	Ank	Ankyrin repeat	609-641	CL0465	Ank	Homo sapiens
PF00023	Ank	Ankyrin repeat	477-509	CL0465	Ank	Homo sapiens
PF00023	Ank	Ankyrin repeat	576-608	CL0465	Ank	Homo sapiens
PF00023	Ank	Ankyrin repeat	510-542	CL0465	Ank	Homo sapiens
PF00069	Pkinase	Protein kinase domain	13-275	CL0016	PKinase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Adenocarcinoma	Neoplasms ;	0.513	0.655
Brain Neoplasms	Neoplasms ; Nervous System Diseases ;	0.513	0.655
Non-Small Cell Lung Carcinoma	Neoplasms ; Respiratory Tract Diseases ;	0.513	0.655
Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.513	0.655
Carcinoma, Transitional Cell	Neoplasms ;	0.513	0.655
Conjunctival Diseases	Eye Diseases ;	0.513	0.655
Adenoid Cystic Carcinoma	Neoplasms ;	0.513	0.655
Leukemia, Myelocytic, Acute	Neoplasms ;	0.513	0.655
Lung Neoplasms	Neoplasms ; Respiratory Tract Diseases ;	0.513	0.655
Acute Myeloid Leukemia, M1	Neoplasms ;	0.513	0.655
Neoplasm Metastasis	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.513	0.655
Peripheral Neuropathy	Nervous System Diseases ;	0.513	0.655
Respiratory Tract Diseases	Respiratory Tract Diseases ;	0.513	0.655
Salivary Gland Neoplasms	Neoplasms ; Stomatognathic Diseases ;	0.513	0.655
Neoplasms, Second Primary	Neoplasms ;	0.513	0.655
Neoplasms, Therapy-Associated	Neoplasms ;	0.513	0.655
Juvenile-Onset Still Disease	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.513	0.655
Malignant neoplasm of brain	Neoplasms ; Nervous System Diseases ;	0.513	0.655
Adenocarcinoma, Basal Cell	Neoplasms ;	0.513	0.655
Adenocarcinoma, Oxyphilic	Neoplasms ;	0.513	0.655
Carcinoma, Cribriform	Neoplasms ;	0.513	0.655
Carcinoma, Granular Cell	Neoplasms ;	0.513	0.655
Adenocarcinoma, Tubular	Neoplasms ;	0.513	0.655
Malignant neoplasm of salivary gland	Neoplasms ; Stomatognathic Diseases ;	0.513	0.655
Malignant neoplasm of lung	Neoplasms ; Respiratory Tract Diseases ;	0.513	0.655
Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.513	0.655
Benign neoplasm of brain, unspecified	Neoplasms ; Nervous System Diseases ;	0.513	0.655
Brain Tumor, Primary	Neoplasms ; Nervous System Diseases ;	0.513	0.655
Recurrent Brain Neoplasm	Neoplasms ; Nervous System Diseases ;	0.513	0.655
Primary malignant neoplasm of brain	Neoplasms ; Nervous System Diseases ;	0.513	0.655
Treatment related secondary malignancy	Neoplasms ;	0.513	0.655
Chromophobe Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.513	0.655
Sarcomatoid Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.513	0.655
Collecting Duct Carcinoma of the Kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.513	0.655
Papillary Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.513	0.655
Neoplasms, Intracranial	Neoplasms ; Nervous System Diseases ;	0.513	0.655
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.513	0.655
Hematopoetic Myelodysplasia	Hemic and Lymphatic Diseases ;	0.513	0.655
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.513	0.655
Juvenile arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.513	0.655
Juvenile psoriatic arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.513	0.655
NO RESULT FOUND

Description:	Xenopus tropicalis death associated protein kinase 1 (dapk1), mRNA. [Source:RefSeq mRNA;Acc:NM_001123439]
Synonyms:	dapk, dapk1-b, dapk1-a
Other ID(s):	ENSXETG00000017571, XB-GENE-1011852
Protein Accession Numbers:	XP_012810672, NP_001116911, XP_012810690
Statistics:	ClinVar(72) gnomAD(2424) COSMIC(2758) PTM(36)

Classification of Clinicial Significance of ClinVar Data