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

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
22-29704100-C-T	ENST00000406549	p.Ala2Val	Missense Variant	2	31404	0.000064	rs912801365
22-29704110-G-A	ENST00000406549	p.Val5Val	Synonymous Variant	0	0	0	rs759770165
22-29704112-C-T	ENST00000406549	p.Ala6Val	Missense Variant	0	0	0	rs1188585936
22-29704113-G-A	ENST00000406549	p.Ala6Ala	Synonymous Variant	0	0	0	rs765409245
22-29704115-G-T	ENST00000406549	p.Gly7Val	Missense Variant	0	0	0	rs942918674
22-29704117-A-G	ENST00000406549	p.Ile8Val	Missense Variant	0	0	0	rs752781251
22-29704120-G-A	ENST00000406549	p.Ala9Thr	Missense Variant	0	0	0	rs758995333
22-29704121-C-G	ENST00000406549	p.Ala9Gly	Missense Variant	1	31400	0.000032	rs764709290
22-29704122-G-A	ENST00000406549	p.Ala9Ala	Synonymous Variant	0	0	0	rs751978551
22-29704124-G-T	ENST00000406549	p.Gly10Val	Missense Variant	0	0	0	rs757706218	mnv
22-29704125-C-T	ENST00000406549	p.Gly10Gly	Synonymous Variant	10427	31338	0.332727	rs11090564	mnv
22-29704128-G-A	ENST00000406549	p.Ser11Ser	Synonymous Variant	0	0	0	rs1458908504
22-29704130-C-T	ENST00000406549	p.Ala12Val	Missense Variant	0	0	0	rs745534105
22-29704131-G-A	ENST00000406549	p.Ala12Ala	Synonymous Variant	204	31386	0.0065	rs148534591
22-29704136-A-G	ENST00000406549	p.Lys14Arg	Missense Variant	1	31398	0.000032	rs1380455469
22-29704141-G-A	ENST00000406549	p.Val16Met	Missense Variant	0	0	0	rs779572504
22-29704144-C-T	ENST00000406549	p.Arg17Trp	Missense Variant	0	0	0	rs748750973
22-29704145-G-A	ENST00000406549	p.Arg17Gln	Missense Variant	1	31390	0.000032	rs1232409514
22-29704148-C-A	ENST00000406549	p.Pro18Gln	Missense Variant	0	0	0	rs768134819
22-29704153-C-A	ENST00000406549	p.Arg20Ser	Missense Variant	0	0	0	rs376837134

Showing 1 to 20 of 501 entries

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Post-translational Modifications (PTMs)

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
GAS2L1	Q99501	Phosphorylation	11	S11-p	PVAGIAGsAAkSVRP	72.72	36123754
GAS2L1	Q99501	Ubiquitination	14	K14-ub	GIAGsAAkSVRPFRS	72.72	573782248
GAS2L1	Q99501	Phosphorylation	193	T193-p	ETAPAPGtPARGPRM	72.72	3210168
GAS2L1	Q99501	Phosphorylation	220	T220-p	REILGRCtCPDQFPM	72.72	34356923
GAS2L1	Q99501	Phosphorylation	231	S231-p	QFPMIKVsEGKYRVG	72.72	34356926
GAS2L1	Q99501	Phosphorylation	290	T290-p	PPQPRVCtFsPQRVs	72.72	4760561
GAS2L1	Q99501	Phosphorylation	292	S292-p	QPRVCtFsPQRVsPt	72.72	4760566
GAS2L1	Q99501	Phosphorylation	297	S297-p	tFsPQRVsPttsPRP	72.72	3210147
GAS2L1	Q99501	Phosphorylation	299	T299-p	sPQRVsPttsPRPAs	72.72	4760571
GAS2L1	Q99501	Phosphorylation	300	T300-p	PQRVsPttsPRPAsP	72.72	23109089
GAS2L1	Q99501	Phosphorylation	301	S301-p	QRVsPttsPRPAsPV	72.72	4760576
GAS2L1	Q99501	Phosphorylation	306	S306-p	ttsPRPAsPVPGsER	72.72	1974201
GAS2L1	Q99501	Phosphorylation	311	S311-p	PAsPVPGsERRGsRP	72.72	15426276
GAS2L1	Q99501	Phosphorylation	316	S316-p	PGsERRGsRPEMtPV	72.72	4760581
GAS2L1	Q99501	Phosphorylation	321	T321-p	RGsRPEMtPVsLRST	72.72	9285869
GAS2L1	Q99501	Phosphorylation	324	S324-p	RPEMtPVsLRSTKEG	72.72	31881861
GAS2L1	Q99501	Phosphorylation	334	T334-p	STKEGPEtPPRPRDQ	72.72	3913934
GAS2L1	Q99501	Phosphorylation	351	Y351-p	PHPRSRRysGDsDSs	72.72	4760586
GAS2L1	Q99501	Phosphorylation	352	S352-p	HPRSRRysGDsDSsA	72.72	1974202
GAS2L1	Q99501	Phosphorylation	355	S355-p	SRRysGDsDSsAsSA	72.72	4760591

Showing 1 to 20 of 44 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
GAS2L1_ENST00000406549	ENST00000406549	HCC1897	lung	carcinoma	47495941	c.949C>G	p.R317G	Substitution - Missense	NEUTRAL	.10256	Variant of unknown origin	PMID: 29681454	NS	317
GAS2L1_ENST00000406549	ENST00000406549	I2L-P5-Tumor-Organoid	large_intestine	carcinoma	47496422	c.*31C>T	p.?	Unknown	NEUTRAL	.00293	Confirmed somatic variant	PMID: 25957691	NS	0
GAS2L1_ENST00000406549	ENST00000406549	EXTERN_MELA_20140924_013	skin	malignant_melanoma	47496502	c.-56C>T	p.?	Unknown		.5697	Confirmed somatic variant	PMID: 28467829	primary	0
GAS2L1_ENST00000406549	ENST00000406549	CHG-12-01579T	liver	other	47495909	c.1010+451C>T	p.?	Unknown	NEUTRAL	.00099	Confirmed somatic variant	PMID: N/A	primary	0
GAS2L1_ENST00000406549	ENST00000406549	ACINAR26	pancreas	carcinoma	47496513	c.767G>A	p.R256Q	Substitution - Missense	PATHOGENIC	.95287	Confirmed somatic variant	PMID: 24293293	primary	256
GAS2L1_ENST00000406549	ENST00000406549	TCGA-EW-A1J5-01	breast	carcinoma	47497032	c.1011-125G>C	p.?	Unknown	PATHOGENIC	.92232	Confirmed somatic variant	PMID: N/A	primary	0
GAS2L1_ENST00000406549	ENST00000406549	CAL33	upper_aerodigestive_tract	carcinoma	47495799	c.1011-491dup	p.?	Unknown			Reported in another cancer sample as somatic	PMID: 25275298	NS	0
GAS2L1_ENST00000406549	ENST00000406549	KYSE-510	oesophagus	carcinoma	47496074	c.1071C>T	p.G357=	Substitution - coding silent	NEUTRAL	.44962	Variant of unknown origin	PMID: 25151357	NS	357
GAS2L1_ENST00000406549	ENST00000406549	TCGA-AA-3492-01	large_intestine	carcinoma	47496726	c.164G>A	p.G55E	Substitution - Missense	NEUTRAL	.37102	Confirmed somatic variant	PMID: N/A	NS	55
GAS2L1_ENST00000406549	ENST00000406549	T43	large_intestine	carcinoma	47496504	c.385C>T	p.L129=	Substitution - coding silent	PATHOGENIC	.92468	Confirmed somatic variant	PMID: 27149842	NS	129
GAS2L1_ENST00000406549	ENST00000406549	SNUH_G25_S1	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	47495835	c.1220G>A	p.G407D	Substitution - Missense	NEUTRAL	.46803	Confirmed somatic variant	PMID: N/A	NS	407
GAS2L1_ENST00000406549	ENST00000406549	TCGA-BS-A0UA-01	endometrium	carcinoma	47496175	c.1010+22A>C	p.?	Unknown	NEUTRAL	.00946	Confirmed somatic variant	PMID: N/A	primary	0
GAS2L1_ENST00000406549	ENST00000406549	TCGA-B0-5098-01	kidney	carcinoma	47497110	c.757G>T	p.V253L	Substitution - Missense	PATHOGENIC	.94814	Confirmed somatic variant	PMID: N/A	primary	253
GAS2L1_ENST00000406549	ENST00000406549	LUAD-S01345	lung	carcinoma	47497197	c.747G>A	p.L249=	Substitution - coding silent	NEUTRAL	.27693	Variant of unknown origin	PMID: 22980975	primary	249
GAS2L1_ENST00000406549	ENST00000406549	TCGA-AM-5820-01	large_intestine	carcinoma	47496142	c.30C>T	p.G10=	Substitution - coding silent	NEUTRAL	.45183	Confirmed somatic variant	PMID: N/A	NS	10
GAS2L1_ENST00000406549	ENST00000406549	H1648	lung	carcinoma	47495941	c.949C>G	p.R317G	Substitution - Missense	NEUTRAL	.10256	Variant of unknown origin	PMID: 29681454	NS	317
GAS2L1_ENST00000406549	ENST00000406549	TCGA-AJ-A3EK-01	endometrium	carcinoma	47496534	c.-19-28C>T	p.?	Unknown	NEUTRAL	.1209	Confirmed somatic variant	PMID: N/A	NS	0
GAS2L1_ENST00000406549	ENST00000406549	OSCC-GB_00250111	upper_aerodigestive_tract	carcinoma	47496213	c.821G>T	p.C274F	Substitution - Missense	PATHOGENIC	.94021	Confirmed somatic variant	PMID: N/A	NS	274
GAS2L1_ENST00000406549	ENST00000406549	T3724	large_intestine	carcinoma	47496394	c.1337del	p.P446Rfs*29	Deletion - Frameshift			Confirmed somatic variant	PMID: 27149842	NS	446
GAS2L1_ENST00000406549	ENST00000406549	I2L-P19Ta-Tumor-Biopsy	large_intestine	carcinoma	47495922	c.1158del	p.P387Hfs*2	Deletion - Frameshift			Confirmed somatic variant	PMID: 25957691	NS	387

Showing 1 to 20 of 135 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
PF00307	CH	Calponin homology (CH) domain	27-149	CL0188	CH	Homo sapiens
PF02187	GAS2	Growth-Arrest-Specific Protein 2 Domain	208-276			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.857	0.069
Acute Myeloid Leukemia, M1	Neoplasms ;	0.857	0.069
Schizophrenia	Mental Disorders ;	0.857	0.069
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.857	0.069
NO RESULT FOUND

Description:	growth arrest-specific 2 like 1 [Source:MGI Symbol;Acc:MGI:1926176]
Synonyms:	TU-71.1, 4930500E24Rik, Gar22, D0Jmb1
Other ID(s):	MGI:1926176, ENSMUSG00000034201
Protein Accession Numbers:	NP_001177335, XP_017170339, NP_084504, XP_017170338, NP_001177337, XP_030102297, NP_653146
Statistics:	gnomAD(501) COSMIC(135) PTM(44)

Classification of Clinicial Significance of ClinVar Data