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: ENST00000558432, NP_005730, ENST00000557875, ENST00000561180, ENST00000414708, ENST00000560425, ENST00000558418, NP_001293015, ENST00000539159, ENST00000561117, ENST00000310803, ENST00000559830, ENST00000558164, NP_001122074, ENST00000450598, ENST00000560929
Statistics: ClinVar(23) gnomAD(366) COSMIC(347) PTM(36)
ClinVar Pathogenicity of Variations help

∙ 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 ENST00000539159 ENST00000557875 ENST00000558164 ENST00000558418 ENST00000558432 ENST00000559830 You are here now! ENST00000560425 ENST00000560929 ENST00000561117 ENST00000561180 NP_001122074 NP_001293015 You are here now! NP_005730


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00130 C1_1 Phorbol esters/diacylglycerol binding domain (C1 domain) 542-594 CL0006 C1 Homo sapiens
PF00617 RasGEF RasGEF domain 208-384 Homo sapiens
PF00618 RasGEF_N RasGEF N-terminal motif 57-153 CL0542 RAS_GEF_N Homo sapiens
PF13405 EF-hand_6 EF-hand domain 474-501 CL0220 EF_hand Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
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
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