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

4 papers

NM_015340.4

p.I360fs

c.1078_1079fs

Surrounding Variants

6 papers

NM_015340.4

p.I360fs

c.1078_1079fs

3 papers

NM_015340.4

p.I360T

c.1079T>C

18 papers

NM_015340.4

p.V359delFs

c.1077delT

1 paper

NM_015340.4

p.E355K

c.1063G>A

4 papers

NM_015340.4

p.L351L

c.1053T>C

1 paper

NM_015340.4

p.D371A

c.1112A>C

2 papers

NM_015340.4

p.S372*

c.1115C>A

2 papers

NM_015340.4

p.S372*

c.1115C>G

2 papers

NM_015340.4

p.K373R

c.1118A>G

3 papers

NM_015340.4

p.I374L

c.1120A>C

3 papers

NM_015340.4

p.I374L

c.1120A>T

1 paper

NM_015340.4

p.G375Splc

c.1123+1G>A