Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.V224I

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.V224I
c.670G>A
Surrounding Variants
1 paper
NM_012208.4
p.K231_F232del2
c.691_695del6
4 papers
NM_012208.4
p.R216Q
c.647G>A
NM_001278731.2
p.R191Q
c.572G>A
4 papers
NM_012208.4
p.R233C
c.697C>T
NM_001278731.2
p.R208C
c.622C>T
2 papers
NM_012208.4
p.R215W
c.643C>T
1 paper
NM_012208.4
p.K211_V212Splc
c.634-2A>G
1 paper
NM_012208.4
p.D243A
c.728A>C
1 paper
NM_012208.4
p.G202E
c.605G>A
17 papers
NM_012208.4
p.L200V
c.598C>G
1 paper
NM_012208.4
p.C197W
c.591T>G
1 paper
NM_012208.4
p.D189delFs
c.567delT
1 paper
NM_012208.4
p.P185L
c.554C>T
1 paper
NM_012208.4
p.F183fs
c.547_548fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."