Varaico: Literature-Extracted Genetic Variants

NARS1

75 papers

RefSeq Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRN...

Pfam Domains

AsnRS_Naa 21–110UCSCAsparaginal-tRNA synthetase, N-terminal domain

tRNA_anti-codonaa 128–208UCSCOB-fold nucleic acid binding domain

tRNA-synt_2aa 225–543UCSCtRNA synthetases class II (D, K and N)

Gene Aliases

HGNC Name

asparaginyl-tRNA synthetase 1

HGNC Alias Symbol

AsnRS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 76 variants

10 papers

NM_004539.4

p.R545C

c.1633C>T

8 papers

NM_004539.4

p.R534*

c.1600C>T

7 papers

NM_004539.4

p.D356A

c.1067A>C

5 papers

NM_004539.4

p.C342Y

c.1025G>A

5 papers

NM_004539.4

p.S461F

c.1382C>T

3 papers

NM_004539.4

p.T17M

c.50C>T

3 papers

NM_004539.4

p.M236del1

c.706_707delCAT

3 papers

NM_004539.4

p.G519R

c.1555G>C

2 papers

NM_004539.4

p.R11P

c.32G>C

2 papers

NM_004539.4

p.S48*

c.143C>G

2 papers

NM_004539.4

p.S48*

c.143C>A

2 papers

NM_004539.4

p.L350P

c.1049T>C