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

9 papers

NM_002109.6

p.T132I

c.395C>T

Surrounding Variants

1 paper

NM_002109.6

p.T132S

c.395C>G

1 paper

NM_002109.6

p.T132S

c.394A>T

1 paper

NM_002109.6

p.L131F

c.391C>T

1 paper

NM_002109.6

p.D130N

c.388G>A

1 paper

NM_002109.6

p.R128C

c.382C>T

1 paper

NM_002109.6

p.D119G

c.356A>G

1 paper

NM_002109.6

p.L117L

c.349C>T

1 paper

NM_002109.6

p.Y115*

c.345T>A

1 paper

NM_002109.6

p.Y115C

c.344A>G

1 paper

NM_002109.6

p.T102I

c.305C>T

1 paper

NM_002109.6

p.E101V

c.302A>T

1 paper

NM_002109.6

p.T132_V133Splc

c.397-163T>C