Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.H376R

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.H376R
c.1127A>G
Surrounding Variants
1 paper
NM_012208.4
p.K374Q
c.1120A>C
2 papers
NM_012208.4
p.G369R
c.1105G>C
15 papers
NM_012208.4
p.V368L
c.1102G>C
16 papers
NM_012208.4
p.V368L
c.1102G>T
1 paper
NM_012208.4
p.D365D
c.1095T>C
1 paper
NM_012208.4
p.E388K
c.1162G>A
1 paper
NM_012208.4
p.E388A
c.1163A>C
2 papers
NM_012208.4
p.Y364C
c.1091A>G
1 paper
NM_012208.4
p.F391_E395delFs
c.1171_1183del13
3 papers
NM_012208.4
p.A359delFs
c.1077delT
1 paper
NM_012208.4
p.E338K
c.1012G>A
9 papers
NM_012208.4
p.Y337C
c.1010A>G
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