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.I456T

c.1367T>C

Surrounding Variants

2 papers

NM_001349.4

p.Y455H

c.1363T>C

3 papers

NM_001349.4

p.R460H

c.1379G>A

3 papers

NM_001349.4

p.P464L

c.1391C>T

1 paper

NM_001349.4

p.P465_H466delFs

c.1395_1396delGA

1 paper

NM_001349.4

p.T439K

c.1316C>A

2 papers

NM_001349.4

p.L426S

c.1277T>C

1 paper

NM_001349.4

p.E424_I425Fs

c.1272_1273delinsCFs

1 paper

NM_001349.4

p.N414K

c.1242C>G

1 paper

NM_001349.4

p.N414K

c.1242C>A

1 paper

NM_001349.4

p.M404I

c.1212G>T

1 paper

NM_001349.4

p.M404K

c.1211T>A

1 paper

NM_001349.4

p.M404V

c.1210A>G