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

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
1-192778202-A-G	ENST00000235382	p.Met1?	Start Lost	0	0	0	rs367901296
1-192778203-T-C	ENST00000235382	p.Met1?	Start Lost	0	0	0	rs563683359
1-192778205-C-G	ENST00000235382	p.Gln2Glu	Missense Variant	0	0	0	rs760672186
1-192778205-C-T	ENST00000235382	p.Gln2Ter	Stop Gained	1	31388	0.000032	rs760672186
1-192778206-A-C	ENST00000235382	p.Gln2Pro	Missense Variant	1	31388	0.000032	rs141030117
1-192778206-A-G	ENST00000235382	p.Gln2Arg	Missense Variant	17	31388	0.000542	rs141030117
1-192778206-A-T	ENST00000235382	p.Gln2Leu	Missense Variant	0	0	0	rs141030117
1-192778207-A-G	ENST00000235382	p.Gln2Gln	Synonymous Variant	1	31372	0.000032	rs769502722
1-192778208-A-G	ENST00000235382	p.Ser3Gly	Missense Variant	34	31372	0.001084	rs145125159
1-192778210-T-C	ENST00000235382	p.Ser3Ser	Synonymous Variant	4	31346	0.000128	rs189578388
1-192778212-C-A	ENST00000235382	p.Ala4Asp	Missense Variant	0	0	0	rs142499684
1-192778212-C-G	ENST00000235382	p.Ala4Gly	Missense Variant	0	0	0	rs142499684
1-192778212-C-T	ENST00000235382	p.Ala4Val	Missense Variant	0	0	0	rs142499684
1-192778213-T-C	ENST00000235382	p.Ala4Ala	Synonymous Variant	0	0	0	rs762277643
1-192778214-A-G	ENST00000235382	p.Met5Val	Missense Variant	14	31376	0.000446	rs193051407
1-192778215-T-C	ENST00000235382	p.Met5Thr	Missense Variant	0	0	0	rs1238408178
1-192778216-G-T	ENST00000235382	p.Met5Ile	Missense Variant	0	0	0	rs756254339
1-192778219-C-T	ENST00000235382	p.Phe6Phe	Synonymous Variant	0	0	0	rs780440673
1-192778223-G-T	ENST00000235382	p.Ala8Ser	Missense Variant	0	0	0	rs754050437
1-192778226-G-C	ENST00000235382	p.Val9Leu	Missense Variant	0	0	0	rs1268549369

Showing 1 to 20 of 180 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
RGS2	P41220	Acetylation	121	K121-ac	LACEDFKkTkSPQkL	24.38	6327429
RGS2	P41220	Acetylation	123	K123-ac	CEDFKkTkSPQkLSS	24.38	6327434
RGS2	P41220	Ubiquitination	127	K127-ub	KkTkSPQkLSSKARk	24.38	964540846
RGS2	P41220	Ubiquitination	134	K134-ub	kLSSKARkIYTDFIE	24.38	964540848
RGS2	P41220	Ubiquitination	142	K142-ub	IYTDFIEkEAPkEIN	24.38	964540850
RGS2	P41220	Ubiquitination	146	K146-ub	FIEkEAPkEINIDFQ	24.38	964540852
RGS2	P41220	Ubiquitination	175	K175-ub	GCFTTAQkRVysLME	24.38	964540854
RGS2	P41220	Phosphorylation	178	Y178-p	TTAQkRVysLMENNS	24.38	34352938
RGS2	P41220	Phosphorylation	179	S179-p	TAQkRVysLMENNSY	24.38	25752006
RGS2	P41220	Ubiquitination	201	K201-ub	FYQDLCKkPQITTEP	24.38	964540856
RGS2	P41220	Ubiquitination	39	K39-ub	KMKRTLLkDWKTRLs	24.38	964540858
RGS2	P41220	Phosphorylation	46	S46-p	kDWKTRLsYFLQNSS	24.38	10772900
RGS2	P41220	Phosphorylation	54	T54-p	YFLQNSStPGkPKTG	24.38	23138941
RGS2	P41220	Ubiquitination	57	K57-ub	QNSStPGkPKTGKKs	24.38	964540860
RGS2	P41220	Phosphorylation	64	S64-p	kPKTGKKsKQQAFIk	24.38	10772901
RGS2	P41220	Ubiquitination	71	K71-ub	sKQQAFIkPSPEEAQ	24.38	964540862

Showing 1 to 16 of 16 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

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
RGS2	ENST00000235382	TCGA-77-8150-01	lung	carcinoma	23557856	c.-24C>T	p.?	Unknown	NEUTRAL	.01402	Confirmed somatic variant	PMID: N/A	NS	0
RGS2	ENST00000235382	TCGA-A3-3346-01	kidney	carcinoma	23558292	c.181G>A	p.G61S	Substitution - Missense	NEUTRAL	.04944	Variant of unknown origin	PMID: N/A	primary	61
RGS2	ENST00000235382	548	adrenal_gland	adrenal_cortical_adenoma	23558230	c.11C>T	p.A4V	Substitution - Missense	PATHOGENIC	.77434	Confirmed somatic variant	PMID: 25490274	primary	4
RGS2	ENST00000235382	2973_T	lung	carcinoma	23557834	c.*360G>A	p.?	Unknown		.58875	Confirmed somatic variant	PMID: N/A	NS	0
RGS2	ENST00000235382	2857126	urinary_tract	carcinoma	23558502	c.486A>T	p.I162=	Substitution - coding silent	NEUTRAL	.33123	Confirmed somatic variant	PMID: 25096233	NS	162
RGS2	ENST00000235382	TCGA-AO-A12F-01	breast	carcinoma	23558038	c.-7A>G	p.?	Unknown	NEUTRAL	.01309	Confirmed somatic variant	PMID: N/A	primary	0
RGS2	ENST00000235382	TCGA-56-A4BW-01	lung	carcinoma	23557774	c.256G>A	p.E86K	Substitution - Missense	PATHOGENIC	.89413	Confirmed somatic variant	PMID: N/A	NS	86
RGS2	ENST00000235382	HCC11	liver	carcinoma	23557644	c.110+211C>A	p.?	Unknown	NEUTRAL	.07957	Confirmed somatic variant	PMID: N/A	NS	0
RGS2	ENST00000235382	TCGA-EI-6882-01	large_intestine	carcinoma	23558603	c.602del	p.K201Sfs*14	Deletion - Frameshift			Confirmed somatic variant	PMID: N/A	primary	201
RGS2	ENST00000235382	BZ28	bone	osteosarcoma	23557707	c.*64A>C	p.?	Unknown	NEUTRAL	.17585	Confirmed somatic variant	PMID: 25512523	NS	0
RGS2	ENST00000235382	TCGA-AJ-A3EK-01	endometrium	carcinoma	23558259	c.*317A>G	p.?	Unknown	NEUTRAL	.49306	Confirmed somatic variant	PMID: N/A	NS	0
RGS2	ENST00000235382	TCGA-AJ-A3EK-01	endometrium	carcinoma	23558252	c.*132C>T	p.?	Unknown	NEUTRAL	.22604	Confirmed somatic variant	PMID: N/A	NS	0
RGS2	ENST00000235382	20	upper_aerodigestive_tract	carcinoma	23557650	c.298T>G	p.F100V	Substitution - Missense	PATHOGENIC	.97024	Variant of unknown origin	PMID: 26934577	NS	100
RGS2	ENST00000235382	T2641	large_intestine	carcinoma	23558490	c.63C>T	p.G21=	Substitution - coding silent		.62809	Confirmed somatic variant	PMID: 27149842	NS	21
RGS2	ENST00000235382	182	stomach	carcinoma	23558051	c.110+123del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
RGS2	ENST00000235382	2014_Lung_sq_91_T	lung	carcinoma	23557696	c.442-34A>G	p.?	Unknown	NEUTRAL	.25072	Confirmed somatic variant	PMID: N/A	primary	0
RGS2	ENST00000235382	TCGA-56-8201-01	lung	carcinoma	23558824	c.14T>A	p.M5K	Substitution - Missense	PATHOGENIC	.97419	Confirmed somatic variant	PMID: N/A	primary	5
RGS2	ENST00000235382	TCGA-29-1768-01	ovary	carcinoma	23558285	c.306G>A	p.K102=	Substitution - coding silent		.55945	Variant of unknown origin	PMID: N/A	primary	102
RGS2	ENST00000235382	TCGA-AP-A1E0-01	endometrium	carcinoma	23558477	c.138C>A	p.S46R	Substitution - Missense	PATHOGENIC	.82583	Confirmed somatic variant	PMID: N/A	NS	46
RGS2	ENST00000235382	TCGA-D3-A5GU-06	skin	malignant_melanoma	23558033	c.*45C>T	p.?	Unknown	NEUTRAL	.2716	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 63 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
PF00615	RGS	Regulator of G protein signaling domain	83-198	CL0272	RGS	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.598	0.655
Hypertensive disease	Cardiovascular Diseases ;	0.598	0.655
Leukemia, Myelocytic, Acute	Neoplasms ;	0.598	0.655
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.598	0.655
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.598	0.655
Acute Myeloid Leukemia, M1	Neoplasms ;	0.598	0.655
Secondary Parkinson Disease	Nervous System Diseases ;	0.598	0.655
Schizophrenia	Mental Disorders ;	0.598	0.655
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.598	0.655
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.598	0.655
Parkinson Disease, Secondary Vascular	Nervous System Diseases ;	0.598	0.655
Atherosclerotic Parkinsonism	Nervous System Diseases ;	0.598	0.655
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.598	0.655
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.598	0.655
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.598	0.655
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.598	0.655
NO RESULT FOUND

Description:	regulator of G protein signaling 2 [Source:ZFIN;Acc:ZDB-GENE-040718-410]
Synonyms:	zgc:91965, fa96c08, wu:fj08f11, wu:fa96c08
Other ID(s):	ZDB-GENE-040718-410, ENSDARG00000109741, ENSDARG00000098761
Protein Accession Numbers:	NP_001002662
Statistics:	ClinVar(2) gnomAD(180) COSMIC(63) PTM(16)

Classification of Clinicial Significance of ClinVar Data