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

7 papers

NM_002109.6

p.D175E

c.525T>A

Surrounding Variants

7 papers

NM_002109.6

p.D175E

c.525T>G

2 papers

NM_002109.6

p.D175G

c.524A>G

1 paper

NM_002109.6

p.I178F

c.532A>T

1 paper

NM_002109.6

p.I194V

c.580A>G

2 papers

NM_002109.6

p.G205D

c.614G>A

2 papers

NM_002109.6

p.D206Y

c.616G>T

1 paper

NM_002109.6

p.S227A

c.679T>G

2 papers

NM_002109.6

p.V238A

c.713T>C

1 paper

NM_002109.6

p.V244fs

c.730_731fs

2 papers

NM_002109.6

p.V244delFs

c.730delC

1 paper

NM_002109.6

p.E252D

c.756G>C

1 paper

NM_001258041.3

p.P241L

c.722C>T