Hars (GeneID: 15115) | Mus musculus
Description:histidyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:108087]
Synonyms: MMHRS
Other ID(s): ENSMUSG00000001380, MGI:108087
Protein Accession Numbers: NP_032240
Statistics: ClinVar(58) gnomAD(408) COSMIC(143) dbSNP(12) PTM(43)
ClinVar Pathogenicity of Variations help

+Please click the name of species for the protein accession number used in the alignment.
+A * (asterisk) 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:
+If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000307633 ENST00000504156 You are here now! NP_001244969 NP_001244970 NP_001244971 NP_001276021 NP_001276022 NP_001276023 NP_002100 You are here now!


insert_chartAmino Acid Conservation Percentage (Human versus Organisms with ClinVar and gnomAD Data)

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 Name filter_list Description filter_list Type filter_list Positions filter_list BitScore filter_list E-Value filter_list Clan filter_list
NO RESULT FOUND
WHEP-TRS WHEP-TRS domain Domain 7-45 36.2 4.8e-09 CL0600
tRNA-synt_His Histidyl-tRNA synthetase Domain 61-389 140.3 8.2e-41 CL0040
HGTP_anticodon Anticodon binding domain Domain 410-500 63.9 1.2e-17 CL0458

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Autoimmune Diseases Immune System Diseases ; 0.609 0.655
Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.609 0.655
Charcot-Marie-Tooth Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.609 0.655
Lung diseases Respiratory Tract Diseases ; 0.609 0.655
Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.609 0.655
Chromophobe Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.609 0.655
Sarcomatoid Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.609 0.655
Collecting Duct Carcinoma of the Kidney Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.609 0.655
Papillary Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.609 0.655
Usher Syndrome, Type III Otorhinolaryngologic Diseases ; Nervous System Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.609 0.655
USHER SYNDROME, TYPE IIIB N/A 0.609 0.655
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W N/A 0.609 0.655
NO RESULT FOUND
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