Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.F323L

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.F323L
c.969C>G
Surrounding Variants
1 paper
NM_001040436.3
p.F323L
c.969C>A
1 paper
NM_001040436.3
p.F323Y
c.968T>A
1 paper
NM_001040436.3
p.F323L
c.967T>C
1 paper
NM_001040436.3
p.L320L
c.960G>A
1 paper
NM_001040436.3
p.R316_K319delFs
c.948_957del10
1 paper
NM_001040436.3
p.L318Q
c.953T>A
2 papers
NM_001040436.3
p.I329T
c.986T>C
3 papers
NM_001040436.3
p.R316S
c.948G>T
3 papers
NM_001040436.3
p.R316S
c.948G>C
1 paper
NM_001040436.3
p.R316R
c.948G>A
1 paper
NM_001040436.3
p.H331Y
c.991C>T
1 paper
NM_001040436.3
p.Q334*
c.1000C>T
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