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

4 papers

NM_020117.11

p.Y214C

c.641A>G

Surrounding Variants

1 paper

NM_020117.11

p.D215G

c.644A>G

3 papers

NM_020117.11

p.D215A

c.644A>C

1 paper

NM_020117.11

p.W201G

c.601T>G

1 paper

NM_020117.11

p.R228K

c.683G>A

1 paper

NM_020117.11

p.D200N

c.598G>A

1 paper

NM_020117.11

p.Y240C

c.719A>G

3 papers

NM_020117.11

p.P242L

c.725C>T

1 paper

NM_020117.11

p.G245R

c.733G>A

3 papers

NM_020117.11

p.C248F

c.743G>T

1 paper

NM_020117.11

p.E257A

c.770A>C

1 paper

NM_020117.11

p.E297*

c.889G>T

1 paper

NM_020117.11

p.E297Q

c.889G>C