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

12 papers

NM_002109.6

p.Y330C

c.989A>G

Surrounding Variants

1 paper

NM_002109.6

p.Y331N

c.991T>A

1 paper

NM_002109.6

p.G327E

c.980G>A

1 paper

NM_002109.6

p.A325V

c.974C>T

1 paper

NM_002109.6

p.E337K

c.1009G>A

8 papers

NM_002109.6

p.S356N

c.1067G>A

1 paper

NM_002109.6

p.R362C

c.1084C>T

2 papers

NM_002109.6

p.R362H

c.1085G>A

12 papers

NM_002109.6

p.D364Y

c.1090G>T

1 paper

NM_002109.6

p.G365E

c.1094G>A

1 paper

NM_002109.6

p.G368C

c.1102G>T

1 paper

NM_002109.6

p.G368G

c.1104C>T

1 paper

NM_002109.6

p.G368G

c.1104C>A