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.D456G

c.1367A>G

Surrounding Variants

1 paper

NM_020117.11

p.D456E

c.1368C>G

1 paper

NM_020117.11

p.D456E

c.1368C>A

1 paper

NM_020117.11

p.S453N

c.1358G>A

3 papers

NM_020117.11

p.I451F

c.1351A>T

6 papers

NM_020117.11

p.V431D

c.1292T>A

2 papers

NM_020117.11

p.P428P

c.1284G>A

5 papers

NM_020117.11

p.P428L

c.1283C>T

1 paper

NM_020117.11

p.V423I

c.1267G>A

3 papers

NM_020117.11

p.D399A

c.1196A>C

3 papers

NM_020117.11

p.D395N

c.1183G>A

2 papers

NM_020117.11

p.G387S

c.1159G>A

1 paper

NM_020117.11

p.G385Splc

c.1153+1G>A