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.Y835C

c.2504A>G

Surrounding Variants

1 paper

NM_020117.11

p.K834*

c.2500A>T

1 paper

NM_020117.11

p.E837_L838delins

c.2511_2512delinsGG

1 paper

NM_020117.11

p.R845_E846delins

c.2535_2536delinsGG

1 paper

NM_020117.11

p.L847V

c.2539C>G

1 paper

NM_020117.11

p.A860T

c.2578G>A

5 papers

NM_020117.11

p.M815I

c.2445G>T

4 papers

NM_020117.11

p.M815I

c.2445G>C

4 papers

NM_020117.11

p.M815I

c.2445G>A

1 paper

NM_020117.11

p.T808fs

c.2422_2423fs

1 paper

NM_020117.11

p.T808delFs

c.2422delT

1 paper

NM_020117.11

p.A888P

c.2662G>C

1 paper

NM_020117.11

p.G889C

c.2665G>T