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

Start Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
3-128199871-G-A	ENST00000341105	p.Ala478Ala	Synonymous Variant	0	0	0	rs1180428559
3-128199871-G-A	ENST00000487848	p.Ala478Ala	Synonymous Variant	0	0	0	rs1180428559
3-128199873-C-T	ENST00000341105	p.Ala478Thr	Missense Variant	0	0	0	rs780263343
3-128199873-C-T	ENST00000487848	p.Ala478Thr	Missense Variant	0	0	0	rs780263343
3-128199874-G-A	ENST00000341105	p.Thr477Thr	Synonymous Variant	0	0	0	rs754297885
3-128199874-G-A	ENST00000487848	p.Thr477Thr	Synonymous Variant	0	0	0	rs754297885
3-128199879-C-T	ENST00000341105	p.Val476Met	Missense Variant	0	0	0	rs1161135105
3-128199879-C-T	ENST00000487848	p.Val476Met	Missense Variant	0	0	0	rs1161135105
3-128199882-T-C	ENST00000341105	p.Met475Val	Missense Variant	1	31374	0.000032	rs1429596189
3-128199882-T-C	ENST00000487848	p.Met475Val	Missense Variant	1	31374	0.000032	rs1429596189
3-128199889-C-T	ENST00000341105	p.Pro472Pro	Synonymous Variant	4	31366	0.000128	rs376805544
3-128199889-C-T	ENST00000487848	p.Pro472Pro	Synonymous Variant	4	31366	0.000128	rs376805544
3-128199890-G-A	ENST00000341105	p.Pro472Leu	Missense Variant	0	0	0	rs779338723
3-128199890-G-A	ENST00000487848	p.Pro472Leu	Missense Variant	0	0	0	rs779338723
3-128199890-G-T	ENST00000341105	p.Pro472Gln	Missense Variant	0	0	0	rs779338723
3-128199890-G-T	ENST00000487848	p.Pro472Gln	Missense Variant	0	0	0	rs779338723
3-128199892-G-A	ENST00000341105	p.His471His	Synonymous Variant	0	0	0	rs1328529481
3-128199892-G-A	ENST00000487848	p.His471His	Synonymous Variant	0	0	0	rs1328529481
3-128199893-T-C	ENST00000341105	p.His471Arg	Missense Variant	0	0	0	rs1398739326
3-128199893-T-C	ENST00000487848	p.His471Arg	Missense Variant	0	0	0	rs1398739326

Showing 1 to 20 of 874 entries

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Post-translational Modifications (PTMs)

Methylation

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
GATA2	P23769	Phosphorylation	119	S119-p	HHNPWTVsPFSKTPL	50.5	34666304
GATA2	P23769	Phosphorylation	176	T176-p	HLFGFPPtPPKEVsP	50.5	40245500
GATA2	P23769	Phosphorylation	182	S182-p	PtPPKEVsPDPsTTG	50.5	7249310
GATA2	P23769	Phosphorylation	186	S186-p	KEVsPDPsTTGAAsP	50.5	31085664
GATA2	P23769	Phosphorylation	192	S192-p	PsTTGAAsPASSSAG	50.5	14573920
GATA2	P23769	Phosphorylation	213	Y213-p	EDKDGVKyQVsLTEs	50.5	54209464
GATA2	P23769	Phosphorylation	216	S216-p	DGVKyQVsLTEsMKM	50.5	31083249
GATA2	P23769	Phosphorylation	220	S220-p	yQVsLTEsMKMESGS	50.5	36131178
GATA2	P23769	Phosphorylation	276	S276-p	GFLGGPAsSFTPKQR	50.5	23109125
GATA2	P23769	Phosphorylation	290	S290-p	RSKARSCsEGRECVN	50.5	27449613
GATA2	P23769	Phosphorylation	314	Y314-p	RRDGTGHyLCNACGL	50.5	464764
GATA2	P23769	Phosphorylation	322	Y322-p	LCNACGLyHKMNGQN	50.5	464765
GATA2	P23769	Phosphorylation	376	Y376-p	VCNACGLyYKLHNVN	50.5	3450830
GATA2	P23769	Sumoylation	389	K389-sm	VNRPLTMkKEGIQTR	50.5	55431081
GATA2	P23769	Phosphorylation	401	S401-p	QTRNRKMsNKSKKSK	50.5	455583
GATA2	P23769	Ubiquitination	409	K409-ub	NKSKKSKkGAECFEE	50.5	964516354
GATA2	P23769	Phosphorylation	71	S71-p	AHARARVsYsPAHAR	50.5	31886866
GATA2	P23769	Phosphorylation	73	S73-p	ARARVsYsPAHARLT	50.5	14573926
GATA2	P23769	Methylation	86	R86-m2	LTGGQMCrPHLLHSP	50.5	27280697

Showing 1 to 19 of 19 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Frameshift

Insertion - Frameshift

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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
GATA2	ENST00000341105	2566184	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	30752600	c.961C>T	p.L321F	Substitution - Missense	PATHOGENIC	.98533	Reported in another cancer sample as somatic	PMID: 25241285	primary	321
GATA2	ENST00000341105	NPC0002PT00037T00037	upper_aerodigestive_tract	carcinoma	30752235	c.490G>A	p.A164T	Substitution - Missense	PATHOGENIC	.91046	Reported in another cancer sample as somatic	PMID: 28851814	primary	164
GATA2	ENST00000341105	3206A7_017_T	liver	carcinoma	30755516	c.1300G>T	p.A434S	Substitution - Missense	PATHOGENIC	.99029	Confirmed somatic variant	PMID: 25159915	NS	434
GATA2	ENST00000341105	98216	stomach	carcinoma	30752589	c.724A>G	p.T242A	Substitution - Missense	PATHOGENIC	.98187	Confirmed somatic variant	PMID: 24807215	primary	242
GATA2	ENST00000341105	ID01	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	30755153	c.923G>A	p.R308Q	Substitution - Missense	PATHOGENIC	.9846	Confirmed somatic variant	PMID: 22976956	NS	308
GATA2	ENST00000341105	T_CCA_TH_12	biliary_tract	carcinoma	30752792	c.-45-784G>A	p.?	Unknown	PATHOGENIC	.98524	Confirmed somatic variant	PMID: N/A	primary	0
GATA2	ENST00000341105	PD6139a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	30756667	c.915_916del	p.W306Afs*77	Deletion - Frameshift			Confirmed somatic variant	PMID: 24030381	NS	306
GATA2	ENST00000341105	P-0004122-T01-IM5	breast	carcinoma	30753223	c.1408C>A	p.P470T	Substitution - Missense	PATHOGENIC	.9981	Confirmed somatic variant	PMID: 28481359	metastasis	470
GATA2	ENST00000341105	P-0005621-T02-IM5	lung	carcinoma	30752267	c.400C>A	p.P134T	Substitution - Missense	PATHOGENIC	.99437	Confirmed somatic variant	PMID: 28481359	primary	134
GATA2	ENST00000341105	PD6884a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	30753189	c.890A>G	p.N297S	Substitution - Missense	PATHOGENIC	.9837	Confirmed somatic variant	PMID: 24030381	NS	297
GATA2	ENST00000341105	PD6884a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	30753117	c.950A>G	p.N317S	Substitution - Missense	PATHOGENIC	.99358	Confirmed somatic variant	PMID: 24030381	NS	317
GATA2	ENST00000341105	HCA7	large_intestine	carcinoma	30754374	c.327G>A	p.A109=	Substitution - coding silent	NEUTRAL	.1826	Variant of unknown origin	PMID: 24755471	NS	109
GATA2	ENST00000341105	NPC0001PT00278T00278	upper_aerodigestive_tract	carcinoma	30752235	c.490G>A	p.A164T	Substitution - Missense	PATHOGENIC	.91046	Reported in another cancer sample as somatic	PMID: 28851814	primary	164
GATA2	ENST00000341105	TCGA-EA-A6QX-01	cervix	carcinoma	30755975	c.*33C>T	p.?	Unknown	NEUTRAL	.22512	Confirmed somatic variant	PMID: N/A	NS	0
GATA2	ENST00000341105	5-GE071-T1	skin	carcinoma	30752649	c.817G>A	p.G273R	Substitution - Missense	PATHOGENIC	.97976	Reported in another cancer sample as somatic	PMID: 26950094	NS	273
GATA2	ENST00000341105	5-GE071-T1	skin	carcinoma	30752643	c.1249C>T	p.L417=	Substitution - coding silent	PATHOGENIC	.95724	Variant of unknown origin	PMID: 26950094	NS	417
GATA2	ENST00000341105	65	oesophagus	carcinoma	30753096	c.1018-2A>G	p.?	Unknown	PATHOGENIC	.96458	Confirmed somatic variant	PMID: 29420467	NS	0
GATA2	ENST00000341105	TCGA-B5-A11N-01	endometrium	carcinoma	30756676	c.1095C>T	p.N365=	Substitution - coding silent	PATHOGENIC	.85116	Variant of unknown origin	PMID: N/A	primary	365
GATA2	ENST00000341105	T3056	large_intestine	carcinoma	30756288	c.1079G>T	p.W360L	Substitution - Missense	PATHOGENIC	.97253	Confirmed somatic variant	PMID: 25344691	NS	360
GATA2	ENST00000341105	1322354	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	30752948	c.1075T>G	p.L359V	Substitution - Missense	PATHOGENIC	.93328	Reported in another cancer sample as somatic	PMID: 18250304	NS	359

Showing 1 to 20 of 759 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
PF00320	GATA	GATA zinc finger	349-383	CL0167	Zn_Beta_Ribbon	Homo sapiens
PF00320	GATA	GATA zinc finger	295-329	CL0167	Zn_Beta_Ribbon	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Cartilage Diseases	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ;	0.536	0.621
Leukemia, Myelocytic, Acute	Neoplasms ;	0.536	0.621
Lymphatic Diseases	Hemic and Lymphatic Diseases ;	0.536	0.621
Lymphedema	Hemic and Lymphatic Diseases ;	0.536	0.621
Myelodysplasia	N/A	0.536	0.621
Acute Myeloid Leukemia, M1	Neoplasms ;	0.536	0.621
Chondromalacia	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ;	0.536	0.621
Cardiovascular Abnormalities	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.536	0.621
Juvenile Myelomonocytic Leukemia	Neoplasms ; Hemic and Lymphatic Diseases ;	0.536	0.621
Hematologic Neoplasms	Neoplasms ; Hemic and Lymphatic Diseases ;	0.536	0.621
Craniofacial Abnormalities	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.536	0.621
Milroy Disease	Hemic and Lymphatic Diseases ;	0.536	0.621
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.536	0.621
Hematopoetic Myelodysplasia	Hemic and Lymphatic Diseases ;	0.536	0.621
Emberger syndrome	N/A	0.536	0.621
GATA2 Deficiency	N/A	0.536	0.621
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.536	0.621
NO RESULT FOUND

Description:	GATA binding protein 2 [Source:NCBI gene;Acc:705551]
Synonyms:
Other ID(s):	ENSMMUG00000021371
Protein Accession Numbers:	XP_014985584, XP_001097707
Statistics:	ClinVar(1113) gnomAD(874) COSMIC(759) PTM(19)

Classification of Clinicial Significance of ClinVar Data