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

1 paper

NM_015340.4

p.R113delFs

c.337delC

Surrounding Variants

1 paper

NM_015340.4

p.R113Q

c.338G>A

1 paper

NM_015340.4

p.Q115*

c.343C>T

1 paper

NM_015340.4

p.T110P

c.328A>C

1 paper

NM_015340.4

p.D109G

c.326A>G

1 paper

NM_015340.4

p.M117L

c.349A>C

1 paper

NM_015340.4

p.M117L

c.349A>T

1 paper

NM_015340.4

p.M117T

c.350T>C

10 papers

NM_015340.4

p.M117I

c.351G>A

12 papers

NM_015340.4

p.M117I

c.351G>C

10 papers

NM_015340.4

p.M117I

c.351G>T

2 papers

NM_015340.4

p.Q121R

c.362A>G

4 papers

NM_015340.4

p.R103H

c.308G>A