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_002109.6

p.T132_V133Splc

c.397-163T>C

Surrounding Variants

9 papers

NM_002109.6

p.V133F

c.397G>T

1 paper

NM_002109.6

p.V133I

c.397G>A

10 papers

NM_002109.6

p.P134H

c.401C>A

17 papers

NM_002109.6

p.R137Q

c.410G>A

2 papers

NM_002109.6

p.Y138H

c.412T>C

1 paper

NM_002109.6

p.Y138F

c.413A>T

1 paper

NM_002109.6

p.R149H

c.446G>A

14 papers

NM_002109.6

p.V155G

c.464T>G

1 paper

NM_001289094.2

p.G137D

c.410G>A

1 paper

NM_002109.6

p.C174_D175Splc

c.522+6T>C

9 papers

NM_002109.6

p.T132I

c.395C>T

1 paper

NM_002109.6

p.T132S

c.395C>G