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.P337S

c.1009C>T

Surrounding Variants

1 paper

NM_015340.4

p.V336V

c.1008C>T

2 papers

NM_015340.4

p.D340N

c.1018G>A

1 paper

NM_015340.4

p.L327R

c.980T>G

7 papers

NM_015340.4

p.H324Q

c.972C>A

7 papers

NM_015340.4

p.H324Q

c.972C>G

1 paper

NM_015340.4

p.G323R

c.967G>A

1 paper

NM_015340.4

p.S315S

c.945G>A

1 paper

NM_015340.4

p.S315L

c.944C>T

1 paper

NM_015340.4

p.A313P

c.937G>C

1 paper

NM_015340.4

p.V312delFs

c.936delG

1 paper

NM_015340.4

p.V312M

c.934G>A

1 paper

NM_015340.4

p.D340Splc

c.1018+92A>G