Varaico: Literature-Extracted Genetic Variants

Gene:YARS2
Variant:p.L389fs

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.L389fs
c.1165_1166fs
Surrounding Variants
2 papers
NM_001040436.3
p.L389insFs
c.1165_1166insG
1 paper
NM_001040436.3
p.V383_E388ins2
c.1147_1164dup18
4 papers
NM_001040436.3
p.L389fs
c.1165_1166fs
7 papers
NM_001040436.3
p.L392S
c.1175T>C
1 paper
NM_001040436.3
p.F393delFs
c.1177delA
4 papers
NM_001040436.3
p.C369Y
c.1106G>A
3 papers
NM_001040436.3
p.R368Splc
c.1104-1G>A
1 paper
NM_001040436.3
p.T412N
c.1235C>A
2 papers
NM_001040436.3
p.R424Q
c.1271G>A
2 papers
NM_001040436.3
p.S365S
c.1095T>C
5 papers
NM_001040436.3
p.D364Y
c.1090G>T
6 papers
NM_001040436.3
p.R360*
c.1078C>T
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