ConVarT

ClinVar Data

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

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
9-90113997-C-A	ENST00000491893	p.Thr2Asn	Missense Variant	0	0	0	rs1264912718
9-90113998-C-T	ENST00000491893	p.Thr2Thr	Synonymous Variant	0	0	0	rs758304973
9-90113999-G-A	ENST00000491893	p.Val3Met	Missense Variant	0	0	0	rs779739080
9-90114016-C-A	ENST00000491893	p.Asn8Lys	Missense Variant	0	0	0	rs569339922
9-90114016-C-T	ENST00000491893	p.Asn8Asn	Synonymous Variant	5	31314	0.00016	rs569339922
9-90114017-G-A	ENST00000491893	p.Val9Met	Missense Variant	0	0	0	rs748611690
9-90114020-G-A	ENST00000491893	p.Asp10Asn	Missense Variant	1	31332	0.000032	rs770022301
9-90114024-A-T	ENST00000491893	p.Asp11Val	Missense Variant	0	0	0	rs1362202422
9-90114025-T-C	ENST00000491893	p.Asp11Asp	Synonymous Variant	5	31276	0.00016	rs200015695
9-90114028-C-T	ENST00000491893	p.Tyr12Tyr	Synonymous Variant	1	31332	0.000032	rs1167382711
9-90114034-C-T	ENST00000491893	p.Asp14Asp	Synonymous Variant	0	0	0	rs1177846603
9-90114035-A-G	ENST00000491893	p.Thr15Ala	Missense Variant	0	0	0	rs771403284
9-90114036-C-T	ENST00000491893	p.Thr15Ile	Missense Variant	0	0	0	rs1468596640
9-90114037-C-G	ENST00000491893	p.Thr15Thr	Synonymous Variant	0	0	0	rs374553824
9-90114038-G-C	ENST00000491893	p.Gly16Arg	Missense Variant	0	0	0	rs759598995
9-90114038-G-T	ENST00000491893	p.Gly16Cys	Missense Variant	0	0	0	rs759598995
9-90114043-G-A	ENST00000491893	p.Glu17Glu	Synonymous Variant	0	0	0	rs752888985
9-90114044-G-C	ENST00000491893	p.Glu18Gln	Missense Variant	0	0	0	rs1326444710
9-90114051-G-T	ENST00000491893	p.Gly20Val	Missense Variant	0	0	0	rs554925684
9-90114052-C-G	ENST00000491893	p.Gly20Gly	Splice Region Variant	0	0	0	rs1055531445

Showing 1 to 20 of 1,166 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Ubiquitination

Show entries

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_ENST00000491893	ENST00000491893	NPC0002PT00037T00037	upper_aerodigestive_tract	carcinoma	68562154	c.3839G>A	p.S1280N	Substitution - Missense	NEUTRAL	.03609	Reported in another cancer sample as somatic	PMID: 28851814	primary	1280
DAPK1_ENST00000491893	ENST00000491893	S01170_1	lung	carcinoma	68574411	c.2782G>T	p.D928Y	Substitution - Missense	PATHOGENIC	.97765	Confirmed somatic variant	PMID: 26168399	primary	928
DAPK1_ENST00000491893	ENST00000491893	98216	stomach	carcinoma	68562576	c.1996C>T	p.R666*	Substitution - Nonsense		.61844	Confirmed somatic variant	PMID: 24807215	primary	666
DAPK1_ENST00000491893	ENST00000491893	J32_T	lung	carcinoma	68571428	c.1924-4606G>A	p.?	Unknown	NEUTRAL	.00487	Confirmed somatic variant	PMID: N/A	NS	0
DAPK1_ENST00000491893	ENST00000491893	GCTK_391_T	stomach	carcinoma	68574032	c.919-98A>G	p.?	Unknown	NEUTRAL	.13143	Confirmed somatic variant	PMID: N/A	primary	0
DAPK1_ENST00000491893	ENST00000491893	EV006-LN1a	kidney	carcinoma	68561845	c.356T>G	p.F119C	Substitution - Missense	PATHOGENIC	.9859	Confirmed somatic variant	PMID: 24487277	metastasis	119
DAPK1_ENST00000491893	ENST00000491893	DN14011	breast	carcinoma	68569658	c.63-19139T>C	p.?	Unknown	NEUTRAL	.02768	Confirmed somatic variant	PMID: N/A	primary	0
DAPK1_ENST00000491893	ENST00000491893	TCGA-DD-A115-01	liver	carcinoma	68566181	c.1851G>A	p.A617=	Substitution - coding silent	NEUTRAL	.09925	Confirmed somatic variant	PMID: N/A	NS	617
DAPK1_ENST00000491893	ENST00000491893	A1-2A	large_intestine	carcinoma	68572288	c.2815G>A	p.E939K	Substitution - Missense	PATHOGENIC	.91935	Confirmed somatic variant	PMID: N/A	primary	939
DAPK1_ENST00000491893	ENST00000491893	442-02-5TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	68566993	c.2225-238C>T	p.?	Unknown	NEUTRAL	.02283	Confirmed somatic variant	PMID: N/A	primary	0
DAPK1_ENST00000491893	ENST00000491893	PD_03	skin	carcinoma	68574159	c.3583C>T	p.Q1195*	Substitution - Nonsense	PATHOGENIC	.99125	Confirmed somatic variant	PMID: 24662767	NS	1195
DAPK1_ENST00000491893	ENST00000491893	2834136	skin	malignant_melanoma	68566138	c.2302G>T	p.G768C	Substitution - Missense	PATHOGENIC	.96094	Variant of unknown origin	PMID: 28296713	primary	768
DAPK1_ENST00000491893	ENST00000491893	PD_03	skin	carcinoma	68562315	c.2414-1519C>T	p.?	Unknown	PATHOGENIC	.80417	Confirmed somatic variant	PMID: 24662767	NS	0
DAPK1_ENST00000491893	ENST00000491893	AOCS-135-3-1	ovary	carcinoma	68566069	c.63-48801T>G	p.?	Unknown	NEUTRAL	.06664	Confirmed somatic variant	PMID: N/A	NS	0
DAPK1_ENST00000491893	ENST00000491893	HCA7	large_intestine	carcinoma	68567718	c.1936G>A	p.A646T	Substitution - Missense	PATHOGENIC	.8214	Variant of unknown origin	PMID: 24755471	NS	646
DAPK1_ENST00000491893	ENST00000491893	EV006-R15	kidney	carcinoma	68561845	c.356T>G	p.F119C	Substitution - Missense	PATHOGENIC	.9859	Confirmed somatic variant	PMID: 24487277	primary	119
DAPK1_ENST00000491893	ENST00000491893	CPCG0183-F1	prostate	carcinoma	68566397	c.62+22407G>A	p.?	Unknown	NEUTRAL	.00543	Confirmed somatic variant	PMID: N/A	NS	0
DAPK1_ENST00000491893	ENST00000491893	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	68565911	c.2414-2622A>G	p.?	Unknown	NEUTRAL	.01374	Confirmed somatic variant	PMID: N/A	primary	0
DAPK1_ENST00000491893	ENST00000491893	TCGA-VQ-A91U-01	stomach	carcinoma	68566227	c.1261C>T	p.R421W	Substitution - Missense	PATHOGENIC	.91831	Confirmed somatic variant	PMID: N/A	primary	421
DAPK1_ENST00000491893	ENST00000491893	NPC0001PT00278T00278	upper_aerodigestive_tract	carcinoma	68562154	c.3839G>A	p.S1280N	Substitution - Missense	NEUTRAL	.03609	Reported in another cancer sample as somatic	PMID: 28851814	primary	1280

Showing 1 to 20 of 906 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	1145-1228	CL0041	Death	Caenorhabditis elegans
PF12796	Ank_2	Ankyrin repeats (3 copies)	352-427	CL0465	Ank	Caenorhabditis elegans
PF12796	Ank_2	Ankyrin repeats (3 copies)	416-493	CL0465	Ank	Caenorhabditis elegans
PF12796	Ank_2	Ankyrin repeats (3 copies)	194-295	CL0465	Ank	Caenorhabditis elegans
PF12796	Ank_2	Ankyrin repeats (3 copies)	280-361	CL0465	Ank	Caenorhabditis elegans
PF00069	Pkinase	Protein kinase domain	1-128	CL0016	PKinase	Caenorhabditis elegans

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:	death associated protein kinase 1 [Source:HGNC Symbol;Acc:HGNC:2674]
Synonyms:	DAPK, ROCO3
Other ID(s):	HGNC:2674, ENSG00000196730
Protein Accession Numbers:	ENST00000469640, NP_001275659, ENST00000489291, ENST00000408954, NP_004929, NP_001275658, ENST00000472284, ENST00000358077, NP_001275660, ENST00000491893
Statistics:	gnomAD(1166) COSMIC(906) PTM(36)

Classification of Clinicial Significance of ClinVar Data