ConVarT

ClinVar Data

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

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
9-113637705-A-G	ENST00000541779	p.Val365Ala	Missense Variant	0	0	0	rs752725919
9-113637712-A-G	ENST00000541779	p.Ser363Pro	Missense Variant	0	0	0	rs756095056
9-113637714-T-C	ENST00000541779	p.His362Arg	Missense Variant	0	0	0	rs777712568
9-113637720-T-C	ENST00000541779	p.Asn360Ser	Missense Variant	0	0	0	rs1048242692
9-113637724-T-C	ENST00000541779	p.Ser359Gly	Missense Variant	0	0	0	rs1170045607
9-113637741-A-G	ENST00000541779	p.Ile353Thr	Missense Variant	24	31394	0.000764	rs147367410
9-113637742-T-A	ENST00000541779	p.Ile353Phe	Missense Variant	0	0	0	rs147557148
9-113637742-T-C	ENST00000541779	p.Ile353Val	Missense Variant	0	0	0	rs147557148
9-113637743-G-A	ENST00000541779	p.Thr352Thr	Synonymous Variant	0	0	0	rs139563572
9-113637745-T-C	ENST00000541779	p.Thr352Ala	Missense Variant	0	0	0	rs1404308094
9-113637750-T-A	ENST00000541779	p.Asn350Ile	Missense Variant	0	0	0	rs768789545
9-113637750-T-G	ENST00000541779	p.Asn350Thr	Missense Variant	1	31360	0.000032	rs768789545
9-113637756-G-A	ENST00000541779	p.Ser348Phe	Missense Variant	0	0	0	rs761832922
9-113637763-C-T	ENST00000541779	p.Ala346Thr	Missense Variant	0	0	0	rs770237313
9-113637764-C-T	ENST00000541779	p.Ser345Ser	Synonymous Variant	0	0	0	rs760775038
9-113637765-G-A	ENST00000541779	p.Ser345Leu	Missense Variant	1	31398	0.000032	rs527765818
9-113637765-G-C	ENST00000541779	p.Ser345Trp	Missense Variant	0	0	0	rs527765818
9-113637768-C-A	ENST00000541779	p.Arg344Leu	Missense Variant	1	31382	0.000032	rs546256005
9-113637768-C-T	ENST00000541779	p.Arg344His	Missense Variant	1	31382	0.000032	rs546256005
9-113637769-G-A	ENST00000541779	p.Arg344Cys	Missense Variant	1	31386	0.000032	rs1199624602

Showing 1 to 20 of 232 entries

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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 - Frameshift

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
LPAR1_ENST00000541779	ENST00000541779	0213_CRUK_PC_0213_T1_DNA	prostate	carcinoma	82768193	c.796+24049A>G	p.?	Unknown	NEUTRAL	.04672	Confirmed somatic variant	PMID: N/A	primary	0
LPAR1_ENST00000541779	ENST00000541779	TCGA-DA-A1HY-06	skin	malignant_melanoma	82770198	c.243C>T	p.F81=	Substitution - coding silent	PATHOGENIC	.94508	Confirmed somatic variant	PMID: N/A	NS	81
LPAR1_ENST00000541779	ENST00000541779	CPCG0237-F1	prostate	carcinoma	82765868	c.796+9776dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
LPAR1_ENST00000541779	ENST00000541779	TCGA-DA-A1I5-06	skin	malignant_melanoma	82767356	c.531C>T	p.I177=	Substitution - coding silent	NEUTRAL	.14468	Confirmed somatic variant	PMID: N/A	NS	177
LPAR1_ENST00000541779	ENST00000541779	J32_T	lung	carcinoma	82769945	c.796+7279C>T	p.?	Unknown	NEUTRAL	.03671	Confirmed somatic variant	PMID: N/A	NS	0
LPAR1_ENST00000541779	ENST00000541779	RK107_C01	liver	carcinoma	82770628	c.48+14964T>A	p.?	Unknown	NEUTRAL	.00325	Variant of unknown origin	PMID: N/A	primary	0
LPAR1_ENST00000541779	ENST00000541779	5-VS018-T1	skin	carcinoma	82767590	c.751C>T	p.R251W	Substitution - Missense	PATHOGENIC	.95291	Confirmed somatic variant	PMID: 26950094	NS	251
LPAR1_ENST00000541779	ENST00000541779	5-VS018-T1	skin	carcinoma	82767654	c.99C>T	p.F33=	Substitution - coding silent	PATHOGENIC	.96079	Confirmed somatic variant	PMID: 26950094	NS	33
LPAR1_ENST00000541779	ENST00000541779	EOPC-171_tumor_01	prostate	carcinoma	82770787	c.49-19160T>C	p.?	Unknown	NEUTRAL	.00256	Confirmed somatic variant	PMID: N/A	primary	0
LPAR1_ENST00000541779	ENST00000541779	RK144_C01	liver	carcinoma	82768238	c.48+11382T>C	p.?	Unknown	NEUTRAL	.00616	Confirmed somatic variant	PMID: N/A	NS	0
LPAR1_ENST00000541779	ENST00000541779	PET134T	pancreas	carcinoid-endocrine_tumour	82768900	c.*1620C>T	p.?	Unknown	NEUTRAL	.0346	Confirmed somatic variant	PMID: N/A	primary	0
LPAR1_ENST00000541779	ENST00000541779	tumor_4124432	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	82770902	c.796+30370T>G	p.?	Unknown	NEUTRAL	.00549	Confirmed somatic variant	PMID: N/A	primary	0
LPAR1_ENST00000541779	ENST00000541779	tumor_4124432	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	82770901	c.797-2826G>T	p.?	Unknown	NEUTRAL	.04773	Confirmed somatic variant	PMID: N/A	primary	0
LPAR1_ENST00000541779	ENST00000541779	RK107_C01	liver	carcinoma	82770625	c.48+21913A>C	p.?	Unknown	NEUTRAL	.03803	Variant of unknown origin	PMID: N/A	primary	0
LPAR1_ENST00000541779	ENST00000541779	04-149J1	prostate	carcinoma	82769235	c.796+72C>G	p.?	Unknown	NEUTRAL	.04473	Confirmed somatic variant	PMID: 26928463	primary	0
LPAR1_ENST00000541779	ENST00000541779	RK101_C01	liver	carcinoma	82769944	c.49-21864C>A	p.?	Unknown	NEUTRAL	.03655	Confirmed somatic variant	PMID: N/A	NS	0
LPAR1_ENST00000541779	ENST00000541779	S02120_1	lung	carcinoma	82766057	c.622T>C	p.L208=	Substitution - coding silent	PATHOGENIC	.80891	Confirmed somatic variant	PMID: 26168399	primary	208
LPAR1_ENST00000541779	ENST00000541779	PD23558a	breast	carcinoma	82769839	c.797-960G>C	p.?	Unknown	NEUTRAL	.13172	Confirmed somatic variant	PMID: N/A	NS	0
LPAR1_ENST00000541779	ENST00000541779	AOCS-135-3-1	ovary	carcinoma	82767219	c.797-13842C>A	p.?	Unknown	NEUTRAL	.00147	Confirmed somatic variant	PMID: N/A	NS	0
LPAR1_ENST00000541779	ENST00000541779	ML_75_T_01	skin	carcinoma	82765585	c.49-14040T>C	p.?	Unknown	NEUTRAL	.00257	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 429 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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Anosmia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.586	0.552
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.586	0.552
Fetal Death	Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ;	0.586	0.552
Growth Disorders	Pathological Conditions, Signs and Symptoms ;	0.586	0.552
Leukemia, Myelocytic, Acute	Neoplasms ;	0.586	0.552
Acute Myeloid Leukemia, M1	Neoplasms ;	0.586	0.552
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.586	0.552
Schizophrenia	Mental Disorders ;	0.586	0.552
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.586	0.552
Craniofacial Abnormalities	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.586	0.552
Olfaction Disorders	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.586	0.552
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.586	0.552
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.586	0.552
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.586	0.552
Sense of smell altered	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.586	0.552
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.586	0.552
Cacosmia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.586	0.552
NO RESULT FOUND

Description:	lysophosphatidic acid receptor 1 [Source:HGNC Symbol;Acc:HGNC:3166]
Synonyms:	Mrec1.3, Gpcr26, ec.1.3, VZG1, LPA1, EDG2, vzg-1, GPR26, edg-2
Other ID(s):	HGNC:3166, ENSG00000198121
Protein Accession Numbers:	NP_001374412, NP_001374420, NP_001374430, NP_001374438, ENST00000441240, NP_001374446, NP_001338331, NP_001338339, NP_001338347, NP_001374404, NP_001374409, NP_001374417, NP_001374425, NP_001374435, ENST00000358883, NP_001374443, NP_001338328, NP_001392, NP_001338336, NP_001338344, NP_001374401, NP_001374414, NP_001374422, NP_001374432, NP_001374440, ENST00000541779, NP_001374448, NP_001338333, NP_001338341, NP_001338349, NP_001374406, NP_001374411, NP_001374419, NP_001374427, NP_001374437, ENST00000374431, NP_001374445, NP_001338330, NP_001338338, NP_001338346, NP_001374403, NP_001374416, NP_001374424, NP_001374434, NP_001374442, NP_001338327, NP_001374450, NP_001338335, NP_001338343, NP_001374400, NP_001374408, NP_001374413, NP_001374421, NP_001374431, NP_001374439, ENST00000538760, NP_001374447, NP_001338332, NP_001338340, NP_001338348, NP_001374405, NP_001374410, NP_001374418, NP_001374426, NP_001374436, ENST00000374430, NP_001374444, NP_001338329, NP_476500, NP_001338337, NP_001338345, NP_001374402, NP_001374415, NP_001374423, NP_001374433, NP_001374441, NP_001338326, NP_00137444
Statistics:	gnomAD(232) COSMIC(429)

Classification of Clinicial Significance of ClinVar Data