Varaico: Literature-Extracted Genetic Variants

HARS1

131 papers

RefSeq Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of ami...

Pfam Domains

WHEP-TRSaa 7–52UCSCWHEP-TRS domain

tRNA-synt_Hisaa 61–389UCSCHistidyl-tRNA synthetase

tRNA-synt_Hisaa 66–275UCSCHistidyl-tRNA synthetase

HGTP_anticodonaa 296–387UCSCAnticodon binding domain

Gene Aliases

HGNC Name

histidyl-tRNA synthetase 1

HGNC Previous Symbol

USH3B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001258041.3

p.P241L

c.722C>T

Surrounding Variants

1 paper

NM_002109.6

p.E252D

c.756G>C

2 papers

NM_002109.6

p.V244delFs

c.730delC

1 paper

NM_002109.6

p.V244fs

c.730_731fs

1 paper

NM_002109.6

p.L284P

c.851T>C

2 papers

NM_002109.6

p.V238A

c.713T>C

1 paper

NM_002109.6

p.S227A

c.679T>G

2 papers

NM_002109.6

p.L304ins0

c.910_912dupTTG

1 paper

NM_002109.6

p.E307_Y308insFs

c.921_922ins4

1 paper

NM_002109.6

p.K317_I318Splc

c.951+5G>T

1 paper

NM_002109.6

p.A325V

c.974C>T

1 paper

NM_002109.6

p.G327E

c.980G>A

12 papers

NM_002109.6

p.Y330C

c.989A>G