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

41 papers

NM_015340.4

p.T522N

c.1565C>A

Surrounding Variants

1 paper

NM_015340.4

p.T522A

c.1564A>G

1 paper

NM_015340.4

p.V524A

c.1571T>C

9 papers

NM_015340.4

p.T519M

c.1556C>T

5 papers

NM_015340.4

p.T519A

c.1555A>G

8 papers

NM_015340.4

p.D518N

c.1552G>A

1 paper

NM_015340.4

p.W528C

c.1584G>C

1 paper

NM_015340.4

p.W528C

c.1584G>T

1 paper

NM_015340.4

p.Y529H

c.1585T>C

1 paper

NM_015340.4

p.Y530S

c.1589A>C

5 papers

NM_015340.4

p.P536L

c.1607C>T

1 paper

NM_015340.4

p.P539L

c.1616C>T

1 paper

NM_015340.4

p.S541Splc

c.1622+2T>C