Transcript #00000028 (NM_004738.4, VAPB gene)

Transcript name transcript variant 1
Gene name VAPB (VAMP (vesicle-associated membrane protein)-associated protein B and C)
Chromosome 20
Transcript - NCBI ID NM_004738.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_004729.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
?/. 2 c.137C>T r.(137c>u) p.(Thr46Ile) - -
+/. 2 c.166C>T r.(166c>u) p.(Pro56Ser) - -
./. 2 c.166C>T r.(?) p.(Pro56Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
?/. 2 c.166C>T r.(166c>u) p.(Pro56Ser) - -
?/. 2 c.166C>T r.(166c>u) p.(Pro56Ser) - -
+/. 2 c.166C>T r.(166c>u) p.(Pro56Ser) - -
./. 2 c.166C>T r.(?) p.(Pro56Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
?/. 2 c.167C>A r.(167c>a) p.(Pro56His) - -
+?/. 6 c.700G>A r.(?) p.(Val234Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 6 c.700G>A r.(?) p.(Val234Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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