Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.K466E

YARS2

211 papers

RefSeq Summary

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type...

Pfam Domains

tRNA-synt_1baa 70–375UCSCtRNA synthetases class I (W and Y)

Gene Aliases

HGNC Name

tyrosyl-tRNA synthetase 2

HGNC Alias Symbols

FLJ13995; CGI-04; mt-TyrRS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040436.3
p.K466E
c.1396A>G
Surrounding Variants
2 papers
NM_001040436.3
p.I464T
c.1391T>C
1 paper
NM_001040436.3
p.L462_K463delFs
c.1384_1387del4
1 paper
NM_001040436.3
p.L462fs
c.1384_1385fs
3 papers
NM_001040436.3
p.I454fs
c.1360_1361fs
1 paper
NM_001040436.3
p.I454insFs
c.1360_1361insG
6 papers
NM_001040436.3
p.S435G
c.1303A>G
1 paper
NM_001040436.3
p.R427ins1
c.1279_1280insTCC
1 paper
NM_001040436.3
p.G425G
c.1275G>C
2 papers
NM_001040436.3
p.R424Q
c.1271G>A
1 paper
NM_001040436.3
p.T412N
c.1235C>A
1 paper
NM_001040436.3
p.F393delFs
c.1177delA
7 papers
NM_001040436.3
p.L392S
c.1175T>C
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