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.R4delFs

c.11_12delTC

Surrounding Variants

4 papers

NM_020117.11

p.K5R

c.14A>G

1 paper

NM_020117.11

p.R4R

c.12A>G

1 paper

NM_020117.11

p.K5T

c.14A>C

1 paper

NM_020117.11

p.K15T

c.44A>C

1 paper

NM_020117.11

p.I16L

c.46A>C

1 paper

NM_020117.11

p.E19E

c.57A>G

1 paper

NM_020117.11

p.I20V

c.58A>G

1 paper

NM_020117.11

p.T26A

c.76A>G

1 paper

NM_020117.11

p.T26P

c.76A>C

1 paper

NM_020117.11

p.R28_F30delins

c.83_88delinsAATGGGATA

1 paper

NM_020117.11

p.E31*

c.91G>T

1 paper

NM_020117.11

p.A2_E3Splc

c.6+264C>T