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.A73G

c.218C>G

Surrounding Variants

5 papers

NM_020117.11

p.K82R

c.245A>G

3 papers

NM_020117.11

p.C84*

c.252T>A

2 papers

NM_020117.11

p.E71_F72Splc

c.213+1G>A

1 paper

NM_020117.11

p.R58H

c.173G>A

1 paper

NM_020117.11

p.R58G

c.172C>G

1 paper

NM_020117.11

p.Y54C

c.161A>G

1 paper

NM_020117.11

p.K43E

c.127A>G

1 paper

NM_020117.11

p.C100S

c.298T>A

1 paper

NM_020117.11

p.L104F

c.312G>T

1 paper

NM_020117.11

p.L104F

c.312G>C

1 paper

NM_020117.11

p.R106G

c.316A>G

1 paper

NM_020117.11

p.I108M

c.324A>G