Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.L46Q

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
4 papers
NM_012208.4
p.L46Q
c.137T>A
Surrounding Variants
2 papers
NM_012208.4
p.L42*
c.125T>A
2 papers
NM_012208.4
p.L42*
c.125T>G
1 paper
NM_012208.4
p.E39V
c.116A>T
2 papers
NM_012208.4
p.V37I
c.109G>A
4 papers
NM_012208.4
p.K58E
c.172A>G
1 paper
NM_012208.4
p.T63T
c.189C>T
1 paper
NM_012208.4
p.D65G
c.194A>G
1 paper
NM_012208.4
p.S67S
c.201T>C
1 paper
NM_012208.4
p.H70R
c.209A>G
1 paper
NM_012208.4
p.M71L
c.211A>T
1 paper
NM_012208.4
p.I77_L78delFs
c.231_232delTC
1 paper
NM_012208.4
p.I77M
c.231T>G
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