histidine--tRNA ligase, mitochondrial isoform 1 precursor [Homo sapien - Protein

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Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. [Hereditas. 2020]
Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.
Yu J, Jiang W, Cao L, Na X, Yang J. Hereditas. 2020 Nov 24; 157(1):47. Epub 2020 Nov 24.
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. [J Hum Genet. 2020]
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
Demain LAM, Gerkes EH, Smith RJH, Molina-Ramirez LP, O'Keefe RT, Newman WG. J Hum Genet. 2020 Mar; 65(3):305-311. Epub 2019 Dec 12.
Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA(His) mutation. [J Biol Chem. 2020]
Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA(His) mutation.
Gong S, Wang X, Meng F, Cui L, Yi Q, Zhao Q, Cang X, Cai Z, Mo JQ, Liang Y, et al. J Biol Chem. 2020 Jan 24; 295(4):940-954. Epub 2019 Dec 9.

RefSeq genomic sequence
See the genomic reference sequence for the HARS2 gene (NG_021415.1).
RefSeq mRNA
See reference mRNA sequence for the HARS2 gene (NM_012208.4).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the HARS2 gene.

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Ensembl [Ensembl]
Ensembl
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome