Transcript #00000083 (NM_016156.5, MTMR2 gene)

Transcript name transcript variant 1
Gene name MTMR2 (myotubularin related protein 2)
Chromosome 11
Transcript - NCBI ID NM_016156.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_057240.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

6 entries on 1 page. Showing entries 1 - 6.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 9 c.826G>T r.(?) p.(Glu276*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
./. 10i c.1179+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 11 c.1276C>T r.(?) p.(Gln426*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
./. 12 c.1444C>T r.(?) p.(Gln482*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
./. 14 c.1736_1737insGG r.(?) p.(Tyr579*) VariO:0142 DNA insertion VariO:0015 protein truncation
./. 14 c.1736_1745del10 r.(?) p.(Tyr579Cysfs*6) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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