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

1–12 of 150 variants

6 papers

NM_020117.11

p.Y373C

c.1118A>G

6 papers

NM_020117.11

p.V431D

c.1292T>A

5 papers

NM_020117.11

p.K82R

c.245A>G

5 papers

NM_020117.11

p.P428L

c.1283C>T

5 papers

NM_020117.11

p.M815I

c.2445G>T

4 papers

NM_020117.11

p.K5R

c.14A>G

4 papers

NM_020117.11

p.Y214C

c.641A>G

4 papers

NM_020117.11

p.L711_L712del1

c.2133_2135delAGG

4 papers

NM_020117.11

p.L712del1

c.2134_2135delCAG

4 papers

NM_020117.11

p.M815I

c.2445G>C

4 papers

NM_020117.11

p.M815I

c.2445G>A

3 papers

NM_020117.11

p.C84*

c.252T>A