Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.V250G

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.V250G
c.749T>G
Surrounding Variants
1 paper
NM_012208.4
p.G276Splc
c.826+96C>T
1 paper
NM_012208.4
p.D243A
c.728A>C
4 papers
NM_012208.4
p.R233C
c.697C>T
NM_001278731.2
p.R208C
c.622C>T
1 paper
NM_012208.4
p.K231_F232del2
c.691_695del6
1 paper
NM_012208.4
p.V224I
c.670G>A
1 paper
NM_012208.4
p.G276delins
c.828delinsGTATCCC
3 papers
NM_012208.4
p.G276Fs
c.828delinsGTATCCCTAGTATTTCTACTAFs
4 papers
NM_012208.4
p.R216Q
c.647G>A
NM_001278731.2
p.R191Q
c.572G>A
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.L297L
c.891G>A
1 paper
NM_012208.4
p.E298_G301del4
c.892_902del12
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."