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

1 paper

NM_001349.4

p.V139I

c.415G>A

Surrounding Variants

1 paper

NM_001349.4

p.V139A

c.416T>C

1 paper

NM_001349.4

p.Q132*

c.394C>T

1 paper

NM_001349.4

p.G128R

c.382G>C

1 paper

NM_001349.4

p.G128R

c.382G>A

1 paper

NM_001349.4

p.I127N

c.380T>A

1 paper

NM_001349.4

p.V120delins

c.358_359delinsTC

1 paper

NM_001349.4

p.V120M

c.358G>A

2 papers

NM_001349.4

p.V116I

c.346G>A

1 paper

NM_001349.4

p.P150_L152del0

c.448_456del9

3 papers

NM_001349.4

p.D158V

c.473A>T

1 paper

NM_001349.4

p.P162S

c.484C>T