Varaico: Literature-Extracted Genetic Variants

LARS1

143 papers

RefSeq Summary

This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It i...

Pfam Domains

tRNA-synt_1aa 19–110UCSCtRNA synthetases class I (I, L, M and V)

tRNA-synt_1aa 163–756UCSCtRNA synthetases class I (I, L, M and V)

Anticodon_1aa 794–926UCSCAnticodon-binding domain of tRNA ligase

RBD_LARS1aa 940–1013UCSCLeucine--tRNA ligase, RagD-binding domain

ULD_3aa 1063–1176UCSCLeucine--tRNA ligase, ubiquitin-like domain

Gene Aliases

HGNC Name

leucyl-tRNA synthetase 1

HGNC Alias Symbols

HSPC192; FLJ10595; FLJ21788; LEUS; RNTLS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020117.11

p.I189V

c.565A>G

Surrounding Variants

1 paper

NM_020117.11

p.P185L

c.554C>T

3 papers

NM_020117.11

p.G196A

c.587G>C

1 paper

NM_020117.11

p.E169G

c.506A>G

1 paper

NM_020117.11

p.L166P

c.497T>C

1 paper

NM_020117.11

p.G165G

c.495C>T

1 paper

NM_020117.11

p.I160V

c.478A>G

2 papers

NM_020117.11

p.K155E

c.463A>G

1 paper

NM_020117.11

p.S153A

c.457T>G

1 paper

NM_020117.11

p.K144T

c.431A>C

1 paper

NM_020117.11

p.G142E

c.425G>A

1 paper

NM_020117.11

p.A140D

c.419C>A

1 paper

NM_020117.11

p.A140T

c.418G>A