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

Selected Variant

8 papers

NM_004539.4

p.R534*

c.1600C>T

Surrounding Variants

1 paper

NM_004539.4

p.H532_C537del6

c.1594_1610del18

10 papers

NM_004539.4

p.R545C

c.1633C>T

1 paper

NM_004539.4

p.R545S

c.1633C>A

1 paper

NM_004539.4

p.R545H

c.1634G>A

1 paper

NM_004539.4

p.T547M

c.1640C>T

3 papers

NM_004539.4

p.G519R

c.1555G>C

2 papers

NM_004539.4

p.G509S

c.1525G>A

1 paper

NM_004539.4

p.Q505_R506insFs

c.1515_1516ins1

1 paper

NM_004539.4

p.A487V

c.1460C>T

1 paper

NM_004539.4

p.F480C

c.1439T>G

1 paper

NM_004539.4

p.R478C

c.1432C>T

1 paper

NM_004539.4

p.V473M

c.1417G>A