ConVarT

RASGRP1 (GeneID: 10125) | Homo sapiens

Description:	RAS guanyl releasing protein 1 [Source:HGNC Symbol;Acc:HGNC:9878]
Synonyms:	hRasGRP1, ASGRP, CALDAG-GEFII, V, CALDAG-GEFI
Other ID(s):	HGNC:9878, ENSG00000172575
Protein Accession Numbers:	NP_005730, ENST00000558432, ENST00000557875, ENST00000561180, ENST00000414708, ENST00000560425, NP_001293015, ENST00000558418, ENST00000539159, ENST00000561117, ENST00000310803, ENST00000559830, ENST00000558164, NP_001122074, ENST00000450598, ENST00000560929
Statistics:	ClinVar(26) gnomAD(496) COSMIC(327)

ClinVar Pathogenicity of Variations

Benign

Pathogenic

VUS

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000310803 ENST00000414708 ENST00000450598 You are here now! ENST00000539159 ENST00000557875 ENST00000558164 ENST00000558418 ENST00000558432 ENST00000559830 ENST00000560425 ENST00000560929 ENST00000561117 ENST00000561180 NP_001122074 You are here now! NP_001293015 NP_005730

ClinVar Data

Show entries

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

Protein Altering Variant

Splice Region Variant

Stop Gained

Stop Lost

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
15-38782754-GC-G	ENST00000450598	p.Ter763delextTer?	Frameshift Variant	1	31396	0.000032	rs747455062	lc_lof
15-38782755-C-T	ENST00000450598	p.Ter763Ter	Stop Retained Variant	0	0	0	rs769320375
15-38782757-A-T	ENST00000450598	p.Ter763LysextTer?	Stop Lost	0	0	0	rs776814722
15-38782758-A-T	ENST00000450598	p.Ser762Ser	Synonymous Variant	0	0	0	rs762219429	mnv
15-38782759-G-C	ENST00000450598	p.Ser762Cys	Missense Variant	0	0	0	rs770100472	mnv
15-38782761-A-G	ENST00000450598	p.Cys761Cys	Synonymous Variant	0	0	0	rs774044114
15-38782768-C-T	ENST00000450598	p.Gly759Asp	Missense Variant	0	0	0	rs759241268
15-38782769-C-T	ENST00000450598	p.Gly759Ser	Missense Variant	0	0	0	rs766952859
15-38782772-G-A	ENST00000450598	p.Gln758Ter	Stop Gained	0	0	0	rs752206174	lc_lof
15-38782772-G-C	ENST00000450598	p.Gln758Glu	Missense Variant	0	0	0	rs752206174
15-38782775-C-G	ENST00000450598	p.Glu757Gln	Missense Variant	0	0	0	rs1376266516
15-38782777-A-G	ENST00000450598	p.Met756Thr	Missense Variant	1	31380	0.000032	rs1041781496
15-38782779-T-C	ENST00000450598	p.Gln755Gln	Synonymous Variant	0	0	0	rs1286526576
15-38782785-T-TAA	ENST00000450598	p.Leu753PhefsTer2	Frameshift Variant	0	0	0	rs768832479	lc_lof
15-38782791-A-ATGAT	ENST00000450598	p.His751GlnfsTer11	Frameshift Variant	0	0	0	rs776819939	lc_lof
15-38782800-T-C	ENST00000450598	p.Lys748Lys	Synonymous Variant	0	0	0	rs372923561
15-38782803-T-G	ENST00000450598	p.Glu747Asp	Missense Variant	0	0	0	rs1310249723
15-38782805-C-G	ENST00000450598	p.Glu747Gln	Missense Variant	0	0	0	rs935683618
15-38782815-G-A	ENST00000450598	p.Ser743Ser	Synonymous Variant	0	0	0	rs757045224
15-38782816-G-T	ENST00000450598	p.Ser743Tyr	Missense Variant	1	31376	0.000032	rs1355081514

Showing 1 to 20 of 496 entries

Previous1 2 3 4 5…25Next

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
RASGRP1_ENST00000450598	ENST00000450598	D01	NS	malignant_melanoma	58811911	c.1883G>A	p.R628Q	Substitution - Missense	PATHOGENIC	.84945	Confirmed somatic variant	PMID: 23890154	metastasis	628
RASGRP1_ENST00000450598	ENST00000450598	TCGA-EE-A3AG-06	skin	malignant_melanoma	58811110	c.1802G>T	p.G601V	Substitution - Missense	PATHOGENIC	.86938	Confirmed somatic variant	PMID: N/A	NS	601
RASGRP1_ENST00000450598	ENST00000450598	HCC72T	liver	carcinoma	58809063	c.35+402G>T	p.?	Unknown	NEUTRAL	.21084	Variant of unknown origin	PMID: N/A	primary	0
RASGRP1_ENST00000450598	ENST00000450598	HCC1897	lung	carcinoma	58807479	c.490T>A	p.L164I	Substitution - Missense	NEUTRAL	.07977	Variant of unknown origin	PMID: 29681454	NS	164
RASGRP1_ENST00000450598	ENST00000450598	TCGA-C5-A901-01	cervix	carcinoma	58812576	c.1774G>C	p.E592Q	Substitution - Missense	PATHOGENIC	.96149	Confirmed somatic variant	PMID: N/A	primary	592
RASGRP1_ENST00000450598	ENST00000450598	CPCG0237-F1	prostate	carcinoma	58810790	c.326+2065dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
RASGRP1_ENST00000450598	ENST00000450598	ESCC_25	oesophagus	carcinoma	58810656	c.1036G>A	p.E346K	Substitution - Missense	PATHOGENIC	.90076	Confirmed somatic variant	PMID: 26873401	NS	346
RASGRP1_ENST00000450598	ENST00000450598	TCGA-GN-A26A-06	skin	malignant_melanoma	58810611	c.585G>A	p.R195=	Substitution - coding silent	PATHOGENIC	.79408	Confirmed somatic variant	PMID: N/A	NS	195
RASGRP1_ENST00000450598	ENST00000450598	5-VS018-T1	skin	carcinoma	58810562	c.931G>A	p.E311K	Substitution - Missense	PATHOGENIC	.98557	Confirmed somatic variant	PMID: 26950094	NS	311
RASGRP1_ENST00000450598	ENST00000450598	HKNPC-041-Tumor-SM-64MG7	upper_aerodigestive_tract	carcinoma	58812025	c.613G>A	p.E205K	Substitution - Missense	PATHOGENIC	.97089	Confirmed somatic variant	PMID: 28098136	primary	205
RASGRP1_ENST00000450598	ENST00000450598	GCTK_535_T	stomach	carcinoma	58812356	c.1663G>A	p.E555K	Substitution - Missense	PATHOGENIC	.96752	Confirmed somatic variant	PMID: N/A	primary	555
RASGRP1_ENST00000450598	ENST00000450598	T_CCA_SG_15	biliary_tract	carcinoma	58807665	c.220+11846del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
RASGRP1_ENST00000450598	ENST00000450598	LP6007414-DNA_A02	oesophagus	carcinoma	58809410	c.1324-143G>A	p.?	Unknown	NEUTRAL	.04478	Confirmed somatic variant	PMID: N/A	primary	0
RASGRP1_ENST00000450598	ENST00000450598	TCGA-B5-A11N-01	endometrium	carcinoma	58813160	c.1704G>A	p.E568=	Substitution - coding silent	PATHOGENIC	.73318	Variant of unknown origin	PMID: N/A	primary	568
RASGRP1_ENST00000450598	ENST00000450598	RK107_C01	liver	carcinoma	58813007	c.326+768T>C	p.?	Unknown	NEUTRAL	.09093	Variant of unknown origin	PMID: N/A	primary	0
RASGRP1_ENST00000450598	ENST00000450598	8066067	pancreas	carcinoma	58809627	c.675+511A>C	p.?	Unknown	NEUTRAL	.00715	Confirmed somatic variant	PMID: N/A	NS	0
RASGRP1_ENST00000450598	ENST00000450598	ICGC_GBM48_tumor	central_nervous_system	primitive_neuroectodermal_tumour-medulloblastoma	58811929	c.220+8315G>A	p.?	Unknown	NEUTRAL	.00982	Confirmed somatic variant	PMID: 22832583	primary	0
RASGRP1_ENST00000450598	ENST00000450598	PCSI_0230_Pa_P_526	pancreas	carcinoma	58808469	c.221-808G>T	p.?	Unknown	NEUTRAL	.06003	Confirmed somatic variant	PMID: N/A	primary	0
RASGRP1_ENST00000450598	ENST00000450598	2834130	skin	malignant_melanoma	58807955	c.772G>T	p.V258L	Substitution - Missense	PATHOGENIC	.98418	Variant of unknown origin	PMID: 28296713	primary	258
RASGRP1_ENST00000450598	ENST00000450598	TCGA-HU-8238-01	stomach	carcinoma	58810783	c.1797T>A	p.P599=	Substitution - coding silent	NEUTRAL	.44832	Confirmed somatic variant	PMID: N/A	NS	599

Showing 1 to 20 of 327 entries

Previous1 2 3 4 5…17Next

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**
Rheumatoid Arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.667	0.448
Bipolar Disorder	Mental Disorders ;	0.667	0.448
Endometriosis	Female Urogenital Diseases and Pregnancy Complications ;	0.667	0.448
Leukemia, Myelocytic, Acute	Neoplasms ;	0.667	0.448
Lupus Erythematosus, Systemic	Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.667	0.448
Acute Myeloid Leukemia, M1	Neoplasms ;	0.667	0.448
Libman-Sacks Disease	Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.667	0.448
Endometrioma	Female Urogenital Diseases and Pregnancy Complications ;	0.667	0.448
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.667	0.448
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data