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.G224S

c.670G>A

Surrounding Variants

9 papers

NM_015340.4

p.R228H

c.683G>A

1 paper

NM_015340.4

p.E218K

c.652G>A

1 paper

NM_015340.4

p.V214G

c.641T>G

1 paper

NM_015340.4

p.Q235*

c.703C>T

1 paper

NM_015340.4

p.D211V

c.632A>T

1 paper

NM_015340.4

p.V210A

c.629T>C

1 paper

NM_015340.4

p.P209L

c.626C>T

1 paper

NM_015340.4

p.W241R

c.721T>A

1 paper

NM_015340.4

p.W241R

c.721T>C

1 paper

NM_015340.4

p.V205F

c.613G>T

1 paper

NM_015340.4

p.I243N

c.728T>A

1 paper

NM_015340.4

p.L204L

c.610C>T