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.L205F

c.613C>T

Surrounding Variants

1 paper

NM_001349.4

p.F206C

c.617T>G

1 paper

NM_001349.4

p.I202M

c.606C>G

1 paper

NM_001349.4

p.G201S

c.601G>A

2 papers

NM_001349.4

p.S200C

c.599C>G

1 paper

NM_001349.4

p.Q199*

c.595C>T

3 papers

NM_001349.4

p.Q199E

c.595C>G

2 papers

NM_001349.4

p.R197H

c.590G>A

1 paper

NM_001349.4

p.G214R

c.640G>C

1 paper

NM_001349.4

p.A194T

c.580G>A

1 paper

NM_001349.4

p.T191I

c.572C>T

1 paper

NM_001349.4

p.F206_P221delFs

c.617_663del47

1 paper

NM_001349.4

p.V237V

c.711G>C