Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.F183fs

HARS2

140 papers

RefSeq Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA syn...

Pfam Domains

tRNA-synt_Hisaa 2–320UCSCHistidyl-tRNA synthetase
HGTP_anticodonaa 341–432UCSCAnticodon binding domain

Gene Aliases

HGNC Name

histidyl-tRNA synthetase 2, mitochondrial

HGNC Previous Symbol

HARSL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012208.4
p.F183fs
c.547_548fs
Surrounding Variants
1 paper
NM_012208.4
p.F183delFs
c.549delT
1 paper
NM_012208.4
p.P185L
c.554C>T
1 paper
NM_012208.4
p.D189delFs
c.567delT
1 paper
NM_012208.4
p.C175_D176Splc
c.526-1G>C
1 paper
NM_012208.4
p.C197W
c.591T>G
17 papers
NM_012208.4
p.L200V
c.598C>G
1 paper
NM_012208.4
p.G202E
c.605G>A
1 paper
NM_012208.4
p.R170G
c.508A>G
2 papers
NM_012208.4
p.R168G
c.502C>G
1 paper
NM_012208.4
p.G167D
c.500G>A
1 paper
NM_012208.4
p.I164fs
c.490_491fs
1 paper
NM_012208.4
p.T163insFs
c.489dupC
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