Varaico: Literature-Extracted Genetic Variants

Gene:NARS1
Variant:p.F480C

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
1 paper
NM_004539.4
p.F480C
c.1439T>G
Surrounding Variants
1 paper
NM_004539.4
p.R478C
c.1432C>T
1 paper
NM_004539.4
p.A487V
c.1460C>T
1 paper
NM_004539.4
p.V473M
c.1417G>A
1 paper
NM_004539.4
p.N468S
c.1403A>G
1 paper
NM_004539.4
p.Q505_R506insFs
c.1515_1516ins1
5 papers
NM_004539.4
p.S461F
c.1382C>T
1 paper
NM_004539.4
p.T459I
c.1376C>T
1 paper
NM_004539.4
p.S456F
c.1367C>T
1 paper
NM_004539.4
p.Q450H
c.1350G>C
1 paper
NM_004539.4
p.E433Q
c.1297G>C
1 paper
NM_004539.4
p.E433K
c.1297G>A
2 papers
NM_004539.4
p.A422T
c.1264G>A
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