HARS (GeneID: 3035) | Homo sapiens
Description: histidyl-tRNA synthetase [Source:HGNC Symbol;Acc:HGNC:4816]
Synonyms: CMT2W, USH3B, HRS
Other ID(s): ENSG00000170445, HGNC:4816
Protein Accession Numbers: ENST00000415192, ENST00000507746, NP_002100, ENST00000504156, NP_001276021, ENST00000438307, NP_001244969, ENST00000307633, ENST00000504366, NP_001276023, ENST00000457527, NP_001244971, ENST00000431330, ENST00000512396, ENST00000504156.1, NP_001276022, ENST00000448240, NP_001244970
Statistics: ClinVar(169) gnomAD(353) COSMIC(127) PTM(43)
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.
ENST00000307633 You are here now! ENST00000415192 ENST00000431330 ENST00000438307 ENST00000448240 ENST00000457527 ENST00000504156 ENST00000504366 ENST00000507746 ENST00000512396 NP_001244969 NP_001244970 NP_001244971 You are here now! NP_001276021 NP_001276022 NP_001276023 NP_002100


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
PF00458 WHEP-TRS WHEP-TRS domain 7-55 CL0600 S15_NS1 Homo sapiens
PF03129 HGTP_anticodon Anticodon binding domain 410-501 CL0458 IIaaRS-ABD Homo sapiens
PF13393 tRNA-synt_His Histidyl-tRNA synthetase 61-389 CL0040 tRNA_synt_II Homo sapiens

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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