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

15 papers

NM_002109.6

p.Y454S

c.1361A>C

Surrounding Variants

1 paper

NM_002109.6

p.Q451H

c.1353G>T

1 paper

NM_002109.6

p.Q451H

c.1353G>C

1 paper

NM_002109.6

p.P461R

c.1382C>G

4 papers

NM_002109.6

p.I465L

c.1393A>C

1 paper

NM_002109.6

p.I476T

c.1427T>C

1 paper

NM_002109.6

p.S429*

c.1286C>G

1 paper

NM_002109.6

p.S429*

c.1286C>A

1 paper

NM_002109.6

p.L420R

c.1259T>G

2 papers

NM_002109.6

p.K419delins

c.1255_1256delinsCT

1 paper

NM_002109.6

p.Q417*

c.1249C>T

1 paper

NM_002109.6

p.R405Q

c.1214G>A

1 paper

NM_002109.6

p.I404K

c.1211T>A