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

3 papers

NM_001349.4

p.R494C

c.1480C>T

Surrounding Variants

3 papers

NM_001349.4

p.R494G

c.1480C>G

1 paper

NM_001349.4

p.R494S

c.1480C>A

2 papers

NM_001349.4

p.R494H

c.1481G>A

1 paper

NM_001349.4

p.T500_P501insI

c.1498_1502ins3

1 paper

NM_001349.4

p.T500ins1

c.1498_1499insTCA

3 papers

NM_001349.4

p.R487C

c.1459C>T

1 paper

NM_001349.4

p.M478V

c.1432A>G

1 paper

NM_001349.4

p.R475*

c.1423C>T

1 paper

NM_001349.4

p.E474K

c.1420G>A

1 paper

NM_001349.4

p.L473L

c.1417T>C

1 paper

NM_001349.4

p.P465_H466delFs

c.1395_1396delGA

3 papers

NM_001349.4

p.P464L

c.1391C>T