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

1–12 of 111 variants

17 papers

NM_002109.6

p.R137Q

c.410G>A

15 papers

NM_002109.6

p.Y454S

c.1361A>C

14 papers

NM_002109.6

p.V155G

c.464T>G

12 papers

NM_002109.6

p.Y330C

c.989A>G

12 papers

NM_002109.6

p.D364Y

c.1090G>T

10 papers

NM_002109.6

p.P134H

c.401C>A

9 papers

NM_002109.6

p.T132I

c.395C>T

9 papers

NM_002109.6

p.V133F

c.397G>T

8 papers

NM_002109.6

p.S356N

c.1067G>A

7 papers

NM_002109.6

p.D175E

c.525T>G

7 papers

NM_002109.6

p.D175E

c.525T>A

4 papers

NM_002109.6

p.I465L

c.1393A>C