Varaico: Literature-Extracted Genetic Variants

Gene:HARS2
Variant:p.R467W

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_001278731.2
p.R467W
c.1399C>T
Surrounding Variants
1 paper
NM_012208.4
p.E493V
c.1478A>T
1 paper
NM_012208.4
p.R502P
c.1505G>C
1 paper
NM_012208.4
p.S504insFs
c.1512dupT
1 paper
NM_012208.4
p.E505fs
c.1513_1514fs
7 papers
NM_012208.4
p.R480H
c.1439G>A
1 paper
NM_012208.4
p.V476D
c.1427T>A
1 paper
NM_012208.4
p.G468A
c.1403G>C
1 paper
NM_012208.4
p.C456Y
c.1367G>A
3 papers
NM_012208.4
p.H454P
c.1361A>C
1 paper
NM_012208.4
p.K448E
c.1342A>G
1 paper
NM_012208.4
p.G436R
c.1306G>C
1 paper
NM_012208.4
p.D434G
c.1301A>G
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