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.L712del1

c.2134_2135delCAG

Surrounding Variants

4 papers

NM_020117.11

p.L711_L712del1

c.2133_2135delAGG

1 paper

NM_020117.11

p.S714C

c.2141C>G

1 paper

NM_020117.11

p.K699fs

c.2095_2096fs

1 paper

NM_020117.11

p.D698D

c.2094C>T

1 paper

NM_020117.11

p.D676A

c.2027A>C

1 paper

NM_020117.11

p.S673A

c.2017T>G

1 paper

NM_020117.11

p.V672I

c.2014G>A

3 papers

NM_020117.11

p.V668D

c.2003T>A

1 paper

NM_020117.11

p.V638I

c.1912G>A

2 papers

NM_020117.11

p.P627L

c.1880C>T

1 paper

NM_020117.11

p.S621A

c.1861T>G

2 papers

NM_020117.11

p.G613_L615del0

c.1838_1843del6