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.R179*

c.535A>T

Surrounding Variants

3 papers

NM_001349.4

p.R179K

c.536G>A

1 paper

NM_001349.4

p.R171G

c.511A>G

1 paper

NM_001349.4

p.G170E

c.509G>A

1 paper

NM_001349.4

p.P162S

c.484C>T

3 papers

NM_001349.4

p.D158V

c.473A>T

1 paper

NM_001349.4

p.P150_L152del0

c.448_456del9

1 paper

NM_001349.4

p.R188_T189Splc

c.564+2264G>A

1 paper

NM_001349.4

p.T191I

c.572C>T

1 paper

NM_001349.4

p.A194T

c.580G>A

2 papers

NM_001349.4

p.R197H

c.590G>A

1 paper

NM_001349.4

p.Q199*

c.595C>T

3 papers

NM_001349.4

p.Q199E

c.595C>G