ConVarT

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

Protein Altering Variant

Splice Region Variant

Stop Gained

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
1-25228614-C-T	ENST00000338888	p.Ter430Ter	Stop Retained Variant	0	0	0	rs1315708824
1-25228614-C-T	ENST00000399916	p.Ter430Ter	Stop Retained Variant	0	0	0	rs1315708824
1-25228616-G-A	ENST00000338888	p.Tyr429Tyr	Synonymous Variant	1	31368	0.000032	rs974915355
1-25228616-G-A	ENST00000399916	p.Tyr429Tyr	Synonymous Variant	1	31368	0.000032	rs974915355
1-25228623-C-T	ENST00000338888	p.Arg427Gln	Missense Variant	1	31378	0.000032	rs754460038
1-25228623-C-T	ENST00000399916	p.Arg427Gln	Missense Variant	1	31378	0.000032	rs754460038
1-25228628-C-T	ENST00000338888	p.Val425Val	Synonymous Variant	0	0	0	rs1269312801
1-25228628-C-T	ENST00000399916	p.Val425Val	Synonymous Variant	0	0	0	rs1269312801
1-25228630-C-T	ENST00000338888	p.Val425Met	Missense Variant	0	0	0	rs1339675309
1-25228630-C-T	ENST00000399916	p.Val425Met	Missense Variant	0	0	0	rs1339675309
1-25228631-G-A	ENST00000338888	p.Ala424Ala	Synonymous Variant	0	0	0	rs780748946
1-25228631-G-A	ENST00000399916	p.Ala424Ala	Synonymous Variant	0	0	0	rs780748946
1-25228642-T-C	ENST00000338888	p.Met421Val	Missense Variant	1	31372	0.000032	rs747787589
1-25228642-T-C	ENST00000399916	p.Met421Val	Missense Variant	1	31372	0.000032	rs747787589
1-25228643-G-A	ENST00000338888	p.Arg420Arg	Synonymous Variant	0	0	0	rs1460519421
1-25228643-G-A	ENST00000399916	p.Arg420Arg	Synonymous Variant	0	0	0	rs1460519421
1-25228644-C-T	ENST00000338888	p.Arg420His	Missense Variant	0	0	0	rs754344195
1-25228644-C-T	ENST00000399916	p.Arg420His	Missense Variant	0	0	0	rs754344195
1-25228650-G-A	ENST00000338888	p.Pro418Leu	Missense Variant	0	0	0	rs1258949457
1-25228650-G-A	ENST00000399916	p.Pro418Leu	Missense Variant	0	0	0	rs1258949457

Showing 1 to 20 of 814 entries

Previous1 2 3 4 5…41Next

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)

Deletion - In Frame

Insertion - In Frame

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
RUNX3	ENST00000399916	PCSI_0024_Pa_P	pancreas	carcinoma	44794779	c.59-8652G>A	p.?	Unknown	NEUTRAL	.01685	Confirmed somatic variant	PMID: N/A	primary	0
RUNX3	ENST00000399916	TCGA-GF-A2C7-01	skin	malignant_melanoma	44797534	c.486G>T	p.K162N	Substitution - Missense	PATHOGENIC	.86644	Confirmed somatic variant	PMID: N/A	NS	162
RUNX3	ENST00000399916	PCSI_0082_Pa_P_526	pancreas	carcinoma	44797561	c.*855G>A	p.?	Unknown	NEUTRAL	.11398	Confirmed somatic variant	PMID: N/A	NS	0
RUNX3	ENST00000399916	BD54T	biliary_tract	carcinoma	44795062	c.324+274G>A	p.?	Unknown	NEUTRAL	.10957	Confirmed somatic variant	PMID: N/A	primary	0
RUNX3	ENST00000399916	CPCG0183-F1	prostate	carcinoma	44797003	c.59-5019T>G	p.?	Unknown	NEUTRAL	.06326	Confirmed somatic variant	PMID: N/A	NS	0
RUNX3	ENST00000399916	196	stomach	carcinoma	44795904	c.-113dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
RUNX3	ENST00000399916	T3024	large_intestine	carcinoma	44795042	c.59-4G>A	p.?	Unknown	PATHOGENIC	.89014	Confirmed somatic variant	PMID: 25344691	NS	0
RUNX3	ENST00000399916	PD13418a	breast	carcinoma	44796600	c.58+306C>T	p.?	Unknown	NEUTRAL	.02413	Confirmed somatic variant	PMID: N/A	NS	0
RUNX3	ENST00000399916	DA1506C	endometrium	carcinoma	44795722	c.586+2386G>A	p.?	Unknown	NEUTRAL	.11919	Confirmed somatic variant	PMID: N/A	primary	0
RUNX3	ENST00000399916	RK144_C01	liver	carcinoma	44797577	c.58+2338G>A	p.?	Unknown	NEUTRAL	.01241	Confirmed somatic variant	PMID: N/A	NS	0
RUNX3	ENST00000399916	04-149J1	prostate	carcinoma	44800067	c.250G>A	p.D84N	Substitution - Missense	PATHOGENIC	.97023	Confirmed somatic variant	PMID: 26928463	primary	84
RUNX3	ENST00000399916	2834130	skin	malignant_melanoma	44794410	c.1273G>A	p.V425M	Substitution - Missense	PATHOGENIC	.98151	Variant of unknown origin	PMID: 28296713	primary	425
RUNX3	ENST00000399916	2834130	skin	malignant_melanoma	44794426	c.1046G>T	p.G349V	Substitution - Missense	PATHOGENIC	.98696	Variant of unknown origin	PMID: 28296713	primary	349
RUNX3	ENST00000399916	AOCS-135-3-1	ovary	carcinoma	44796746	c.745+661C>T	p.?	Unknown	NEUTRAL	.02585	Confirmed somatic variant	PMID: N/A	NS	0
RUNX3	ENST00000399916	8033510	pancreas	carcinoma	44797685	c.58+13593C>T	p.?	Unknown	NEUTRAL	.00602	Confirmed somatic variant	PMID: N/A	primary	0
RUNX3	ENST00000399916	5-VS056-T1	skin	carcinoma	44799310	c.396C>T	p.S132=	Substitution - coding silent	NEUTRAL	.1688	Confirmed somatic variant	PMID: 26950094	NS	132
RUNX3	ENST00000399916	T368	large_intestine	carcinoma	44797597	c.121_123del	p.G41del	Deletion - In frame			Confirmed somatic variant	PMID: 25344691	NS	41
RUNX3	ENST00000399916	5-VS056-T1	skin	carcinoma	44799292	c.1052C>T	p.S351F	Substitution - Missense	PATHOGENIC	.96669	Confirmed somatic variant	PMID: 26950094	NS	351
RUNX3	ENST00000399916	TARGET-10-PAPEWB-09A-01D	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	44801211	c.1238C>T	p.T413M	Substitution - Missense	PATHOGENIC	.97165	Confirmed somatic variant	PMID: N/A	primary	413
RUNX3	ENST00000399916	TCGA-IB-AAUQ-01	pancreas	carcinoma	44796037	c.891G>A	p.T297=	Substitution - coding silent	NEUTRAL	.38735	Confirmed somatic variant	PMID: N/A	primary	297

Showing 1 to 20 of 532 entries

Previous1 2 3 4 5…27Next

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**
Adenocarcinoma	Neoplasms ;	0.494	0.69
Celiac Disease	Digestive System Diseases ; Nutritional and Metabolic Diseases ;	0.494	0.69
Esophageal Neoplasms	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Glioblastoma	Neoplasms ;	0.494	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.494	0.69
Lung Neoplasms	Neoplasms ; Respiratory Tract Diseases ;	0.494	0.69
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.494	0.69
Pustulosis of Palms and Soles	Skin and Connective Tissue Diseases ;	0.494	0.69
Polycystic Ovary Syndrome	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.494	0.69
Psoriasis	Skin and Connective Tissue Diseases ;	0.494	0.69
Ankylosing spondylitis	Musculoskeletal Diseases ;	0.494	0.69
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Adenocarcinoma, Basal Cell	Neoplasms ;	0.494	0.69
Adenocarcinoma, Oxyphilic	Neoplasms ;	0.494	0.69
Carcinoma, Cribriform	Neoplasms ;	0.494	0.69
Carcinoma, Granular Cell	Neoplasms ;	0.494	0.69
Adenocarcinoma, Tubular	Neoplasms ;	0.494	0.69
Malignant neoplasm of lung	Neoplasms ; Respiratory Tract Diseases ;	0.494	0.69
Giant Cell Glioblastoma	Neoplasms ;	0.494	0.69
Malignant neoplasm of esophagus	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Sclerocystic Ovaries	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.494	0.69
Glioblastoma Multiforme	Neoplasms ;	0.494	0.69
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.494	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.494	0.69
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.494	0.69
NO RESULT FOUND

Description:	runt related transcription factor 3 [Source:MGI Symbol;Acc:MGI:102672]
Synonyms:	AML2, Pebp2a3, Cbfa3
Other ID(s):	ENSMUSG00000070691, MGI:102672
Protein Accession Numbers:	NP_062706, NP_001355979, XP_006538569
Statistics:	ClinVar(4) gnomAD(814) COSMIC(532)

Classification of Clinicial Significance of ClinVar Data