ConVarT

Amino Acid Conservation Percentage (Human versus Organisms with ClinVar and gnomAD Data)

Total amino acid identity (%)

Variation associated amino acid identity (%)

ClinVar Data

Show entries

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 Acceptor Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
9-5044500-A-G	ENST00000544510	p.Met1?	Start Lost	0	0	0	rs1314502511
9-5044501-T-C	ENST00000544510	p.Met1?	Start Lost	0	0	0	rs752258527
9-5044502-G-A	ENST00000544510	p.Met1?	Start Lost	0	0	0	rs1262939065
9-5044504-C-T	ENST00000544510	p.Ser2Phe	Missense Variant	1	31398	0.000032	rs925878120
9-5044506-T-C	ENST00000544510	p.Tyr3His	Missense Variant	0	0	0	rs1320906746
9-5050689-C-A	ENST00000544510	p.Arg9Arg	Synonymous Variant	0	0	0	rs765494796
9-5050690-G-A	ENST00000544510	p.Arg9Gln	Missense Variant	0	0	0	rs775872666
9-5050692-C-T	ENST00000544510	p.His10Tyr	Missense Variant	0	0	0	rs201191238
9-5050705-A-G	ENST00000544510	p.His14Arg	Missense Variant	1	31398	0.000032	rs1420440130	mnv
9-5050706-C-T	ENST00000544510	p.His14His	Synonymous Variant	11051	31294	0.353135	rs2230722	mnv
9-5050707-G-A	ENST00000544510	p.Gly15Arg	Missense Variant	0	0	0	rs1168347611
9-5050715-A-G	ENST00000544510	p.Ile17Met	Missense Variant	0	0	0	rs1367539459
9-5050718-A-G	ENST00000544510	p.Lys18Lys	Synonymous Variant	0	0	0	rs756750218
9-5050722-C-G	ENST00000544510	p.Pro20Ala	Missense Variant	0	0	0	rs1303066147
9-5050723-C-G	ENST00000544510	p.Pro20Arg	Missense Variant	0	0	0	rs767125301
9-5050725-G-A	ENST00000544510	p.Val21Met	Missense Variant	0	0	0	rs750298503
9-5050727-G-A	ENST00000544510	p.Val21Val	Synonymous Variant	0	0	0	rs938949467
9-5050734-G-A	ENST00000544510	p.Glu24Lys	Missense Variant	1	31392	0.000032	rs1191593743
9-5050740-C-G	ENST00000544510	p.Gln26Glu	Missense Variant	0	0	0	rs756128160
9-5050741-A-T	ENST00000544510	p.Gln26Leu	Missense Variant	0	0	0	rs779879168

Showing 1 to 20 of 762 entries

Previous1 2 3 4 5…39Next

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Complex - Deletion Inframe

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Insertion - In Frame

Nonstop Extension

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
JAK2_ENST00000544510	ENST00000544510	1054870	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 16912229	NS	468
JAK2_ENST00000544510	ENST00000544510	1251297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 19074595	NS	468
JAK2_ENST00000544510	ENST00000544510	1492750	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 20631743	NS	468
JAK2_ENST00000544510	ENST00000544510	1327424	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 19474426	NS	468
JAK2_ENST00000544510	ENST00000544510	2489321	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 25746303	NS	468
JAK2_ENST00000544510	ENST00000544510	2095207	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 24366362	NS	468
JAK2_ENST00000544510	ENST00000544510	2780781	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 26728869	NS	468
JAK2_ENST00000544510	ENST00000544510	1110863	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 17389763	NS	468
JAK2_ENST00000544510	ENST00000544510	2492448	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 25661444	NS	468
JAK2_ENST00000544510	ENST00000544510	1736542	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 22262778	primary	468
JAK2_ENST00000544510	ENST00000544510	2584206	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 27444979	NS	468
JAK2_ENST00000544510	ENST00000544510	1250961	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 19074595	NS	468
JAK2_ENST00000544510	ENST00000544510	1171526	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 18681311	NS	468
JAK2_ENST00000544510	ENST00000544510	1235330	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 19531676	NS	468
JAK2_ENST00000544510	ENST00000544510	1247002	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 19692701	NS	468
JAK2_ENST00000544510	ENST00000544510	1052564	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 17255768	NS	468
JAK2_ENST00000544510	ENST00000544510	AOCS-085-1-2	ovary	carcinoma	83922673	c.879+381T>A	p.?	Unknown	NEUTRAL	.03569	Confirmed somatic variant	PMID: N/A	NS	0
JAK2_ENST00000544510	ENST00000544510	1162895	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 18616871	NS	468
JAK2_ENST00000544510	ENST00000544510	2526733	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 26071474	NS	468
JAK2_ENST00000544510	ENST00000544510	1227243	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	83899422	c.1402G>T	p.V468F	Substitution - Missense	PATHOGENIC	.94485	Reported in another cancer sample as somatic	PMID: 19287382	NS	468

Showing 1 to 20 of 19,715 entries

Previous1 2 3 4 5…986Next

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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Spontaneous abortion	Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Abortion, Tubal	Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Primary Myelofibrosis	Hemic and Lymphatic Diseases ;	0.43	0.69
Calcinosis	Nutritional and Metabolic Diseases ;	0.43	0.69
Uterine Cervical Neoplasm	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Ulcerative Colitis	Digestive System Diseases ;	0.43	0.69
Cytopenia	N/A	0.43	0.69
Heart valve disease	Cardiovascular Diseases ;	0.43	0.69
Hepatic Vein Thrombosis	Digestive System Diseases ; Cardiovascular Diseases ;	0.43	0.69
Hepatoma, Morris	Neoplasms ; Digestive System Diseases ;	0.43	0.69
Hepatoma, Novikoff	Neoplasms ; Digestive System Diseases ;	0.43	0.69
Inflammation	Pathological Conditions, Signs and Symptoms ;	0.43	0.69
leukemia	Neoplasms ;	0.43	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.43	0.69
Myeloid Leukemia, Chronic	Neoplasms ; Hemic and Lymphatic Diseases ;	0.43	0.69
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.43	0.69
Liver Neoplasms, Experimental	Neoplasms ; Digestive System Diseases ;	0.43	0.69
Mesenteric Vascular Occlusion	Digestive System Diseases ; Cardiovascular Diseases ;	0.43	0.69
Myelofibrosis	N/A	0.43	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.43	0.69
Myeloproliferative disease	Hemic and Lymphatic Diseases ;	0.43	0.69
Polycythemia	Hemic and Lymphatic Diseases ;	0.43	0.69
Polycythemia Vera	Neoplasms ; Hemic and Lymphatic Diseases ;	0.43	0.69
Pregnancy Complications	Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.43	0.69
Thrombocythemia, Essential	Hemic and Lymphatic Diseases ;	0.43	0.69
Thromboembolism	Cardiovascular Diseases ;	0.43	0.69
Venous Thrombosis	Cardiovascular Diseases ;	0.43	0.69
Diffuse Large B-Cell Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.43	0.69
Experimental Hepatoma	Neoplasms ; Digestive System Diseases ;	0.43	0.69
Deep Vein Thrombosis	Cardiovascular Diseases ;	0.43	0.69
Myocardial Ischemia	Cardiovascular Diseases ;	0.43	0.69
Familial erythrocytosis	Hemic and Lymphatic Diseases ;	0.43	0.69
Congenital anemia	N/A	0.43	0.69
Tumoral calcinosis	Nutritional and Metabolic Diseases ;	0.43	0.69
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.43	0.69
Hematologic Neoplasms	Neoplasms ; Hemic and Lymphatic Diseases ;	0.43	0.69
Non-alcoholic Fatty Liver Disease	Digestive System Diseases ;	0.43	0.69
Microcalcification	Nutritional and Metabolic Diseases ;	0.43	0.69
Thrombocytosis	Hemic and Lymphatic Diseases ;	0.43	0.69
Budd-Chiari Syndrome	Digestive System Diseases ; Cardiovascular Diseases ;	0.43	0.69
Adult Diffuse Large B-Cell Lymphoma	N/A	0.43	0.69
Childhood Diffuse Large B-Cell Lymphoma	N/A	0.43	0.69
Ovarian Serous Adenocarcinoma	N/A	0.43	0.69
Erythrocytosis	Hemic and Lymphatic Diseases ;	0.43	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.43	0.69
Precursor Cell Lymphoblastic Leukemia Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.43	0.69
Nonalcoholic Steatohepatitis	Digestive System Diseases ;	0.43	0.69
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO	N/A	0.43	0.69
THROMBOCYTHEMIA 3	N/A	0.43	0.69
Thrombocytosis, Autosomal Dominant	Hemic and Lymphatic Diseases ;	0.43	0.69
cervical cancer	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Familial thrombocytosis	N/A	0.43	0.69
NO RESULT FOUND

Description:	Janus kinase 2 [Source:MGI Symbol;Acc:MGI:96629]
Synonyms:	Fd17
Other ID(s):	MGI:96629, ENSMUSG00000024789
Protein Accession Numbers:	XP_006526777, NP_001041642, XP_011245457, XP_006526776, XP_036017342, XP_006526778, NP_032439, XP_017173557
Statistics:	ClinVar(53) gnomAD(762) COSMIC(19715)

Classification of Clinicial Significance of ClinVar Data