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

5 papers

NM_001349.4

p.M256L

c.766A>C

Surrounding Variants

5 papers

NM_001349.4

p.M256L

c.766A>T

1 paper

NM_001349.4

p.I258V

c.772A>G

1 paper

NM_001349.4

p.K254E

c.760A>G

3 papers

NM_001349.4

p.Q251H

c.753G>T

1 paper

NM_001349.4

p.P250A

c.748C>G

1 paper

NM_001349.4

p.S249P

c.745T>C

1 paper

NM_001349.4

p.Q248*

c.742C>T

1 paper

NM_001349.4

p.Q248K

c.742C>A

1 paper

NM_001349.4

p.V265G

c.794T>G

1 paper

NM_001349.4

p.V237V

c.711G>C

1 paper

NM_001349.4

p.F206_P221delFs

c.617_663del47

1 paper

NM_001349.4

p.G214R

c.640G>C