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57176 VARS2

57176

VARS2

valyl-tRNA synthetase 2, mitochondrial

protein-coding

Homo sapiens

基因描述

Type Description
Definition valyl-tRNA synthetase 2, mitochondrial

研究结论

Date Results Publications
2020-06-27 11:37:00 Study shows A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension 31529142
2019-10-05 12:40:00 report two additional cases of two non-related young girls from Sardinia, born from non-consanguineous and healthy parents, carrying the aforesaid homozygous VARS2 variant. At onset both the patients presented with worsening psychomotor delay, muscle hypotonia and brisk tendon reflexes 31064326
2019-05-25 12:04:00 The novel compound heterozygous pathogenic VARS2 mutations c.643 C > T (p. His215Tyr) and c.1354 A > G (p. Met452Val) has been reported in a female infant. These heterozygous mutations were carried individually by the proband's parents and elder sister. 30458719
2019-04-27 12:15:00 this gene should be considered in early-onset mitochondrial encephalomyopathies or encephalocardiomyopathies. 29314548
2018-07-21 10:23:00 VARS2 mutation underlies a novel autosomal recessive syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. 29137650

名称对应

Type IDs
Synonymous COXPD20, VALRS, VARS2L, VARSL
Gene
UniProtKB-ID: SYVM_HUMAN, A0A1U9X9B3_HUMAN, B4E0K6_HUMAN, B4DG77_HUMAN
UniprotKB: Q5ST30, A0A1U9X9B3, B4E0K6, B4DG77
UniParc: UPI0000253B83, UPI0001D14790, UPI0001BDAB0F, UPI0001BDAB0E, UPI0000052386, UPI00017A6E86
EMBL: AK294451, AL669830, BC009355, BC073838, KY500914, AK025618, AL662854, CR936875, CR759747, BC112054, AK293780, AB209479, AL122037, BC008844, AK303415, BC113605, AK304807, AK125069, AL773541, AB067472, BX927194
Ensembl: ENSG00000137411, ENSG00000206476, ENSG00000234032
KO: hsa:57176
Nucleutide sequences
EMBL-CDS: BAG65557.1, AAH08844.2, BAG57195.1, AAI12055.1, AAH09355.2, AAI13606.1, BAD92716.1, AAH73838.1, BAB67778.1, CAB59177.1, BAB15191.1, AQY77378.2, BAG64468.1, BAG57688.1
Ensembl_TRS: ENST00000625423, ENST00000541562, ENST00000321897, ENST00000450090, ENST00000383540
Protein sequencees
Ensembl_PRO: ENSP00000316092, ENSP00000441000, ENSP00000485818, ENSP00000373032, ENSP00000407805
RefSeq: NP_001161206.1, NP_001161205.1, NP_065175.4
Others
UniRef100: UniRef100_A0A0G2JL52, UniRef100_Q5ST30, UniRef100_B4DG77
UniRef90: UniRef90_B4DG77, UniRef90_Q5ST30
UniRef50: UniRef50_Q5ST30, UniRef50_B4DG77
UniGene: Hs.597526
CCDS: CCDS34387.1, CCDS54980.1, CCDS54981.1

全选

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