Transcript #00001290

Transcript name valyl-tRNA synthetase 2, mitochondrial (putative), transcript variant 2
Gene name VARS2 (valyl-tRNA synthetase 2, mitochondrial)
Chromosome 6
Transcript - NCBI ID NM_020442.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_065175.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

13 entries on 1 page. Showing entries 1 - 13.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.511C>T p.(Arg171Trp) - - - -
./. - - c.986-14A>G p.(=) - - - -
./. - 11/30 c.1010C>T p.(Thr337Ile) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.1010C>T p.(Thr337Ile) - - - -
./. - 11/30 c.1045G>A p.(Ala349Thr) probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.1045G>A p.(Ala349Thr) - - - -
./. - - c.1168G>A p.(Ala390Thr) - - - -
./. - - c.1400G>C p.(Arg467Pro) - - - -
./. - - c.1461_1463del p.(Gly488del) - - - -
./. - - c.1787C>A p.(Ala596Asp) - - - -
./. - 19/30 c.1787C>A p.(Ala596Asp) possibly_damaging(0.691) missense_variant - deleterious(0)
./. - - c.1850C>T p.(Thr617Met) - - - -
./. - - c.3098C>T p.(Ser1033Phe) - - - -
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