Varaico: Literature-Extracted Genetic Variants

LARS2

273 papers

RefSeq Summary

This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoac...

Pfam Domains

tRNA-synt_1aa 58–277UCSCtRNA synthetases class I (I, L, M and V)

tRNA-synt_1_2aa 270–336UCSCLeucyl-tRNA synthetase, editing domain

tRNA-synt_1aa 439–606UCSCtRNA synthetases class I (I, L, M and V)

tRNA-synt_1aa 625–679UCSCtRNA synthetases class I (I, L, M and V)

Anticodon_1aa 725–867UCSCAnticodon-binding domain of tRNA ligase

Gene Aliases

HGNC Name

leucyl-tRNA synthetase 2, mitochondrial

HGNC Alias Symbols

KIAA0028; LEURS; MGC26121; mtLeuRS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_015340.4

p.T661T

c.1983G>A

Surrounding Variants

1 paper

NM_015340.4

p.D660V

c.1979A>T

10 papers

NM_015340.4

p.R663W

c.1987C>T

1 paper

NM_015340.4

p.F668L

c.2002T>C

1 paper

NM_015340.4

p.F668Y

c.2003T>A

1 paper

NM_015340.4

p.P672L

c.2015C>T

1 paper

NM_015340.4

p.E673G

c.2018A>G

2 papers

NM_015340.4

p.D649E

c.1947C>A

2 papers

NM_015340.4

p.D649E

c.1947C>G

1 paper

NM_015340.4

p.D675V

c.2024A>T

1 paper

NM_015340.4

p.N646N

c.1938C>T

13 papers

NM_015340.4

p.E638K

c.1912G>A

24 papers

NM_015340.4

p.T629M

c.1886C>T