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

1–12 of 260 variants

41 papers

NM_015340.4

p.T522N

c.1565C>A

24 papers

NM_015340.4

p.T629M

c.1886C>T

18 papers

NM_015340.4

p.V359delFs

c.1077delT

16 papers

NM_015340.4

p.N153H

c.457A>C

13 papers

NM_015340.4

p.E638K

c.1912G>A

12 papers

NM_015340.4

p.M117I

c.351G>C

12 papers

NM_015340.4

p.T300M

c.899C>T

11 papers

NM_015340.4

p.E294K

c.880G>A

10 papers

NM_015340.4

p.M117I

c.351G>A

10 papers

NM_015340.4

p.M117I

c.351G>T

10 papers

NM_015340.4

p.R663W

c.1987C>T

9 papers

NM_015340.4

p.R228H

c.683G>A