Transcript #00000081 (NM_024577.3, SH3TC2 gene)

Transcript name SH3 domain and tetratricopeptide repeats 2
Gene name SH3TC2 (SH3 domain and tetratricopeptide repeats 2)
Chromosome 5
Transcript - NCBI ID NM_024577.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_078853.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

8 entries on 1 page. Showing entries 1 - 8.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 5i c.530-2A>G r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 11 c.1586G>A r.(?) p.(Arg529His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 11 c.1747_1748delAG r.(?) p.(Arg583Alafs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
./. 11 c.2710C>T r.(?) p.(Arg904*) - -
./. 11 c.2829T>A r.(?) p.(Tyr943*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation
./. 11 c.2860C>T r.(?) p.(Arg954*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
./. 14 c.3325C>T r.(?) p.(Arg1109*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
./. 14 c.3325C>T r.(?) p.(Arg1109*) - -
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