FARSB (GeneID: 10056) | Homo sapiens
Description: phenylalanyl-tRNA synthetase subunit beta [Source:HGNC Symbol;Acc:HGNC:17800]
Synonyms: PheHB, FARSLB, HSPC173, PheRS, FRSB
Other ID(s): HGNC:17800, ENSG00000116120
Protein Accession Numbers: ENST00000281828.6, NP_005678, ENST00000281828, ENST00000536361
Statistics: ClinVar(12) gnomAD(448) COSMIC(253) PTM(41)
ClinVar Pathogenicity of Variations help
25%8%58%8%10010090908080707060605050404030302020101000
Benign
Conflicting
Pathogenic
VUS
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∙ 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.
ENST00000281828 You are here now! ENST00000536361 NP_005678 You are here now!


import_contactsClinVar Data

healinggnomAD
3%1%69%2%24%10010090908080707060605050404030302020101000
Frameshift Variant
Inframe Deletion
Inframe Insertion
Missense Variant
Protein Altering Variant
Splice Region Variant
Start Lost
Stop Gained
Synonymous Variant
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placePost-translational Modifications (PTMs)
10%7%22%61%10010090908080707060605050404030302020101000
Acetylation
Methylation
Phosphorylation
Ubiquitination
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blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
7%31%4%57%10010090908080707060605050404030302020101000
Deletion - Frameshift
Insertion - Frameshift
Substitution - Coding Silent
Substitution - Missense
Substitution - Nonsense
Unknown
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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
PF03483 B3_4 B3/4 domain 117-279 CL0383 PheT-TilS Homo sapiens
PF03484 B5 tRNA synthetase B5 domain 308-374 CL0123 HTH Homo sapiens
PF17759 tRNA_synthFbeta Phenylalanyl tRNA synthetase beta chain CLM domain 377-585 CL0040 tRNA_synt_II Homo sapiens
PF18262 PhetRS_B1 Phe-tRNA synthetase beta subunit B1 domain 1-90 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
NO RESULT FOUND
NO RESULT FOUND
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Classification of Clinicial Significance of ClinVar Data
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