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.R163H

c.488G>A

Surrounding Variants

1 paper

NM_015340.4

p.G165A

c.494G>C

1 paper

NM_015340.4

p.L166P

c.497T>C

1 paper

NM_015340.4

p.M157K

c.470T>A

1 paper

NM_015340.4

p.D171N

c.511G>A

3 papers

NM_015340.4

p.K155fs

c.463_464fs

1 paper

NM_015340.4

p.R172K

c.515G>A

3 papers

NM_015340.4

p.I154delFs

c.462delT

4 papers

NM_015340.4

p.R172S

c.516G>C

4 papers

NM_015340.4

p.R172S

c.516G>T

16 papers

NM_015340.4

p.N153H

c.457A>C

5 papers

NM_015340.4

p.Q147P

c.440A>C

1 paper

NM_015340.4

p.R142G

c.424A>G