Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.W12S

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.W12S
c.35G>C
Surrounding Variants
1 paper
NM_012208.4
p.W12*
c.35G>A
1 paper
NM_012208.4
p.A11V
c.32C>T
1 paper
NM_012208.4
p.R10M
c.29G>T
1 paper
NM_012208.4
p.P8H
c.23C>A
2 papers
NM_012208.4
p.L7Fs
c.20_21delinsCFs
2 papers
NM_012208.4
p.P23delFs
c.69delC
1 paper
NM_012208.4
p.C24fs
c.70_71fs
3 papers
NM_012208.4
p.C24*
c.72C>A
1 paper
NM_012208.4
p.S26L
c.77C>T
1 paper
NM_012208.4
p.R32C
c.94C>T
2 papers
NM_012208.4
p.V37I
c.109G>A
1 paper
NM_012208.4
p.E39V
c.116A>T
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