Transcript #00002005

Transcript name transcript variant V
Gene name GTPBP3 (GTP binding protein 3 (mitochondrial))
Chromosome 19
Transcript - NCBI ID NM_032620.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_116009.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.32_33delinsGTG p.(Gln11Argfs*98) - - - -
./. - - c.440C>T p.(Ala147Val) - - - -
./. - - c.476A>T p.(Glu159Val) - - - -
./. - - c.517C>T p.(Arg173Trp) - - - -
./. - - c.643G>T p.(Glu215*) - - - -
./. - - c.964G>C p.(Ala322Pro) - - - -
./. - - c.1009G>C p.(Asp337His) - - - -
./. - - c.1112T>C p.(Leu371Pro) - - - -
./. - - c.1288_1289insC p.(Arg431Profs*87) - - - -
./. - - c.1375G>A p.(Glu459Lys) - - - -
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