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

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
1-109756620-G-C	ENST00000234677	p.Val2Val	Synonymous Variant	0	0	0	rs748471347
1-109756656-G-A	ENST00000234677	p.Gly14Gly	Synonymous Variant	0	0	0	rs1194751617
1-109756661-C-T	ENST00000234677	p.Pro16Leu	Missense Variant	0	0	0	rs772561513
1-109756662-A-G	ENST00000234677	p.Pro16Pro	Synonymous Variant	0	0	0	rs370156901
1-109756663-G-A	ENST00000234677	p.Ala17Thr	Missense Variant	0	0	0	rs761325663
1-109756671-C-T	ENST00000234677	p.Ile19Ile	Synonymous Variant	0	0	0	rs766547515
1-109756678-A-T	ENST00000234677	p.Thr22Ser	Missense Variant	0	0	0	rs1422577179
1-109756697-A-G	ENST00000234677	p.Lys28Arg	Missense Variant	0	0	0	rs922326709
1-109756701-C-G	ENST00000234677	p.Asp29Glu	Missense Variant	1	31402	0.000032	rs1390338472
1-109756702-C-T	ENST00000234677	p.Pro30Ser	Missense Variant	0	0	0	rs1382968538
1-109756704-G-T	ENST00000234677	p.Pro30Pro	Synonymous Variant	0	0	0	rs776895313
1-109756717-C-G	ENST00000234677	p.Gln35Glu	Missense Variant	2	31402	0.000064	rs759796503
1-109756718-A-G	ENST00000234677	p.Gln35Arg	Missense Variant	5	31404	0.000159	rs373847424
1-109756718-A-T	ENST00000234677	p.Gln35Leu	Missense Variant	0	0	0	rs373847424
1-109756723-G-C	ENST00000234677	p.Val37Leu	Missense Variant	0	0	0	rs752479665
1-109756744-C-A	ENST00000234677	p.Arg44Arg	Synonymous Variant	0	0	0	rs764018501
1-109756748-G-T	ENST00000234677	p.Arg45Leu	Missense Variant	0	0	0	rs1291466024
1-109766608-C-T	ENST00000234677	p.Arg49Trp	Missense Variant	0	0	0	rs759549225
1-109766609-G-A	ENST00000234677	p.Arg49Gln	Missense Variant	0	0	0	rs769994581
1-109766616-C-T	ENST00000234677	p.Asp51Asp	Synonymous Variant	0	0	0	rs982999999

Showing 1 to 20 of 303 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
SARS	P49591	Phosphorylation	101	S101-p	ALANLkVsQIKKVRL	58.78	23141783
SARS	P49591	Ubiquitination	116	K116-ub	LIDEAILkCDAERIk	58.78	15497164
SARS	P49591	Ubiquitination	12	K12-ub	LDLFRVDkGGDPALI	58.78	21184108
SARS	P49591	Ubiquitination	123	K123-ub	kCDAERIkLEAERFE	58.78	573764654
SARS	P49591	Phosphorylation	142	S142-p	IGNLLHPsVPISNDE	58.78	50840184
SARS	P49591	Ubiquitination	154	K154-ub	NDEDVDNkVErIWGD	58.78	21184102
SARS	P49591	Methylation	157	R157-m1	DVDNkVErIWGDCTV	58.78	57746663
SARS	P49591	Acetylation	167	K167-ac	GDCTVRKkYSHVDLV	58.78	3911527
SARS	P49591	Acetylation	184	K184-ac	VDGFEGEkGAVVAGS	58.78	3911531
SARS	P49591	Ubiquitination	231	K231-ub	YTPFFMRkEVMQEVA	58.78	573764656
SARS	P49591	Phosphorylation	241	S241-p	MQEVAQLsQFDEELy	58.78	482693
SARS	P49591	Phosphorylation	248	Y248-p	sQFDEELykVIGkGs	58.78	23141789
SARS	P49591	Ubiquitination	249	K249-ub	QFDEELykVIGkGsE	58.78	573764658
SARS	P49591	Ubiquitination	25	K25-ub	LIRETQEkRFkDPGL	58.78	964542998
SARS	P49591	Ubiquitination	253	K253-ub	ELykVIGkGsEkSDD	58.78	964543000
SARS	P49591	Phosphorylation	255	S255-p	ykVIGkGsEkSDDNs	58.78	25310290
SARS	P49591	Ubiquitination	257	K257-ub	VIGkGsEkSDDNsYD	58.78	21184104
SARS	P49591	Phosphorylation	262	S262-p	sEkSDDNsYDEkYLI	58.78	25310293
SARS	P49591	Ubiquitination	266	K266-ub	DDNsYDEkYLIATSE	58.78	21184106
SARS	P49591	Ubiquitination	28	K28-ub	ETQEkRFkDPGLVDQ	58.78	15497158

Showing 1 to 20 of 39 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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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
SARS	ENST00000234677	CPCG0527-F1	prostate	carcinoma	23445228	c.136+2472dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
SARS	ENST00000234677	PD11384a	breast	carcinoma	23447988	c.208-1774C>T	p.?	Unknown	NEUTRAL	.00166	Confirmed somatic variant	PMID: N/A	NS	0
SARS	ENST00000234677	KPOPBR-072-T	breast	carcinoma	23445558	c.137-93C>T	p.?	Unknown	NEUTRAL	.01155	Confirmed somatic variant	PMID: N/A	primary	0
SARS	ENST00000234677	GBM20-R3	central_nervous_system	glioma	23445630	c.657C>T	p.G219=	Substitution - coding silent		.57053	Confirmed somatic variant	PMID: 28263318	recurrent	219
SARS	ENST00000234677	T368	large_intestine	carcinoma	23446665	c.355G>A	p.A119T	Substitution - Missense	NEUTRAL	.03642	Confirmed somatic variant	PMID: 25344691	NS	119
SARS	ENST00000234677	TCGA-ES-A2HT-01	liver	carcinoma	23447489	c.934A>G	p.T312A	Substitution - Missense	PATHOGENIC	.99889	Confirmed somatic variant	PMID: N/A	NS	312
SARS	ENST00000234677	CPCG0005-F1	prostate	carcinoma	23446570	c.969+184C>T	p.?	Unknown	NEUTRAL	.01655	Confirmed somatic variant	PMID: N/A	primary	0
SARS	ENST00000234677	T4430	large_intestine	carcinoma	23446644	c.1100-9del	p.?	Unknown			Confirmed somatic variant	PMID: 27149842	NS	0
SARS	ENST00000234677	CHG-10-51040T	liver	other	23447969	c.1099+49G>A	p.?	Unknown	NEUTRAL	.00682	Confirmed somatic variant	PMID: N/A	primary	0
SARS	ENST00000234677	CHG-10-51040T	liver	other	23447956	c.109G>A	p.V37M	Substitution - Missense		.68427	Confirmed somatic variant	PMID: N/A	primary	37
SARS	ENST00000234677	TCGA-DG-A2KK-01	cervix	carcinoma	23446375	c.1464T>C	p.H488=	Substitution - coding silent	NEUTRAL	.19582	Confirmed somatic variant	PMID: N/A	primary	488
SARS	ENST00000234677	8052570	pancreas	carcinoma	23446132	c.208-1871A>G	p.?	Unknown	NEUTRAL	.00103	Confirmed somatic variant	PMID: N/A	NS	0
SARS	ENST00000234677	TNKTL18	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	23445933	c.207+2114T>G	p.?	Unknown	NEUTRAL	.00468	Confirmed somatic variant	PMID: N/A	primary	0
SARS	ENST00000234677	T263	large_intestine	carcinoma	23447402	c.526A>G	p.M176V	Substitution - Missense	PATHOGENIC	.99885	Confirmed somatic variant	PMID: 25344691	NS	176
SARS	ENST00000234677	TCGA-BR-4362-01	stomach	carcinoma	23444955	c.1042G>A	p.A348T	Substitution - Missense	PATHOGENIC	.99458	Confirmed somatic variant	PMID: N/A	NS	348
SARS	ENST00000234677	T3058	large_intestine	carcinoma	23446357	c.559G>A	p.V187M	Substitution - Missense	PATHOGENIC	.90566	Confirmed somatic variant	PMID: 25344691	NS	187
SARS	ENST00000234677	TCGA-B6-A0I6-01	breast	carcinoma	23445694	c.530T>G	p.V177G	Substitution - Missense	PATHOGENIC	.99853	Confirmed somatic variant	PMID: N/A	primary	177
SARS	ENST00000234677	PCSI_0077_Pa_P_526	pancreas	carcinoma	23448220	c.207+586T>A	p.?	Unknown	NEUTRAL	.00354	Confirmed somatic variant	PMID: N/A	primary	0
SARS	ENST00000234677	DA16017	endometrium	carcinoma	23445383	c.207+1694C>T	p.?	Unknown	NEUTRAL	.0065	Confirmed somatic variant	PMID: N/A	primary	0
SARS	ENST00000234677	TCGA-UY-A78M-01	urinary_tract	carcinoma	23445804	c.793G>A	p.E265K	Substitution - Missense	PATHOGENIC	.99538	Confirmed somatic variant	PMID: N/A	primary	265

Showing 1 to 20 of 181 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
PF00587	tRNA-synt_2b	tRNA synthetase class II core domain (G, H, P, S and T)	248-444	CL0040	tRNA_synt_II	Homo sapiens
PF02403	Seryl_tRNA_N	Seryl-tRNA synthetase N-terminal domain	2-113	CL0298	tRNA_bind_arm	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES	N/A	0.639	0.414
NO RESULT FOUND

Description:	seryl-tRNA synthetase [Source:HGNC Symbol;Acc:HGNC:10537]
Synonyms:	SERRS, SERS
Other ID(s):	HGNC:10537, ENSG00000031698
Protein Accession Numbers:	ENST00000369923, NP_006504, ENST00000234677.2, NP_001317598, ENST00000234677
Statistics:	ClinVar(10) gnomAD(303) COSMIC(181) PTM(39)

Classification of Clinicial Significance of ClinVar Data