Varaico: Literature-Extracted Genetic Variants

DARS1

87 papers

RefSeq Summary

This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in...

Pfam Domains

tRNA_anti-codonaa 60–145UCSCOB-fold nucleic acid binding domain

tRNA-synt_2aa 175–496UCSCtRNA synthetases class II (D, K and N)

Gene Aliases

HGNC Name

aspartyl-tRNA synthetase 1

HGNC Previous Name

aspartyl-tRNA synthetase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001349.4

p.D364Y

c.1090G>T

Surrounding Variants

1 paper

NM_001349.4

p.D364G

c.1091A>G

5 papers

NM_001349.4

p.D367Y

c.1099G>T

2 papers

NM_001349.4

p.D367H

c.1099G>C

1 paper

NM_001349.4

p.D367V

c.1100A>T

1 paper

NM_001349.4

p.M354V

c.1060A>G

1 paper

NM_001349.4

p.L346P

c.1037T>C

1 paper

NM_001349.4

p.T343I

c.1028C>T

1 paper

NM_001349.4

p.C334F

c.1001G>T

1 paper

NM_001349.4

p.C334Y

c.1001G>A

1 paper

NM_001349.4

p.P333Q

c.998C>A

1 paper

NM_001349.4

p.Q322H

c.966G>T

1 paper

NM_001349.4

p.Q322H

c.966G>C