Varaico: Literature-Extracted Genetic Variants

NARS1

75 papers

RefSeq Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRN...

Pfam Domains

AsnRS_Naa 21–110UCSCAsparaginal-tRNA synthetase, N-terminal domain

tRNA_anti-codonaa 128–208UCSCOB-fold nucleic acid binding domain

tRNA-synt_2aa 225–543UCSCtRNA synthetases class II (D, K and N)

Gene Aliases

HGNC Name

asparaginyl-tRNA synthetase 1

HGNC Alias Symbol

AsnRS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004539.4

p.T17M

c.50C>T

Surrounding Variants

1 paper

NM_004539.4

p.T17R

c.50C>G

1 paper

NM_004539.4

p.A16A

c.48C>T

2 papers

NM_004539.4

p.R11P

c.32G>C

1 paper

NM_004539.4

p.L6insFs

c.16_17ins19

1 paper

NM_004539.4

p.L3insFs

c.7_8ins8

1 paper

NM_004539.4

p.M1_V2del1

c.2_4delCCA

1 paper

NM_004539.4

p.M1I

c.3G>A

1 paper

NM_004539.4

p.K38Q

c.112A>C

1 paper

NM_004539.4

p.K38insFs

c.114dupA

2 papers

NM_004539.4

p.S48*

c.143C>G

2 papers

NM_004539.4

p.S48*

c.143C>A

1 paper

NM_004539.4

p.K60E

c.178A>G