Transcript #00001292

Transcript name valyl-tRNA synthetase 2, mitochondrial (putative), transcript variant 1
Gene name VARS2 (valyl-tRNA synthetase 2, mitochondrial)
Chromosome 6
Transcript - NCBI ID NM_001167734.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001161206.1
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.601C>T p.(Arg201Trp) - - - -
./. - - c.1076-14A>G p.(=) - - - -
./. - - c.1100C>T p.(Thr367Ile) - - - -
./. - 11/30 c.1100C>T p.(Thr367Ile) probably_damaging(1) missense_variant - deleterious(0)
./. - 11/30 c.1135G>A p.(Ala379Thr) probably_damaging(0.995) missense_variant - deleterious(0)
./. - - c.1135G>A p.(Ala379Thr) - - - -
./. - - c.1258G>A p.(Ala420Thr) - - - -
./. - - c.1490G>C p.(Arg497Pro) - - - -
./. - - c.1551_1553del p.(Gly518del) - - - -
./. - - c.1877C>A p.(Ala626Asp) - - - -
./. - 19/30 c.1877C>A p.(Ala626Asp) possibly_damaging(0.747) missense_variant - deleterious(0)
./. - - c.1940C>T p.(Thr647Met) - - - -
./. - - c.3188C>T p.(Ser1063Phe) - - - -
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