Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.G276delins

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.G276delins
c.828delinsGTATCCC
Surrounding Variants
3 papers
NM_012208.4
p.G276Fs
c.828delinsGTATCCCTAGTATTTCTACTAFs
1 paper
NM_012208.4
p.L297L
c.891G>A
1 paper
NM_012208.4
p.E298_G301del4
c.892_902del12
2 papers
NM_012208.4
p.L303P
c.908T>C
1 paper
NM_012208.4
p.K304E
c.910A>G
1 paper
NM_012208.4
p.D317Y
c.949G>T
1 paper
NM_012208.4
p.F321_D330delFs
c.961_989del29
1 paper
NM_012208.4
p.G276Splc
c.826+96C>T
1 paper
NM_012208.4
p.R327W
c.979C>T
4 papers
NM_012208.4
p.R327Q
c.980G>A
1 paper
NM_012208.4
p.L329P
c.986T>C
1 paper
NM_012208.4
p.Y331N
c.991T>A
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