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

1–12 of 118 variants

5 papers

NM_001349.4

p.M256L

c.766A>T

5 papers

NM_001349.4

p.M256L

c.766A>C

5 papers

NM_001349.4

p.D367Y

c.1099G>T

4 papers

NM_001349.4

p.A274V

c.821C>T

3 papers

NM_001349.4

p.D158V

c.473A>T

3 papers

NM_001349.4

p.R179K

c.536G>A

3 papers

NM_001349.4

p.Q199E

c.595C>G

3 papers

NM_001349.4

p.Q251H

c.753G>T

3 papers

NM_001349.4

p.R460H

c.1379G>A

3 papers

NM_001349.4

p.P464L

c.1391C>T

3 papers

NM_001349.4

p.R487C

c.1459C>T

3 papers

NM_001349.4

p.R494C

c.1480C>T