Transcript #00025578 (NM_001195.3, BFSP1 gene)

Transcript name transcript variant 1
Gene name BFSP1 (beaded filament structural protein 1, filensin)
Chromosome 20
Transcript - NCBI ID NM_001195.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001186.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

20 entries on 1 page. Showing entries 1 - 20.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.374G>A r.(?) p.(Ser125Asn)
-?/. - c.401G>C r.(?) p.(Cys259Ser)
?/. - c.812T>C r.(?) p.(Ile271Thr)
?/. - c.812T>C r.(?) p.(Ile271Thr)
-?/. - c.879G>A r.(?) p.(Arg293=)
-?/. - c.887C>T r.(?) p.(Ala296Val)
-?/. - c.956+7G>C r.(=) p.(=)
-?/. - c.974T>C r.(?) p.(Ile325Thr)
-/. - c.1033G>A r.(?) p.(Gly345Ser)
-?/. - c.1042+5C>T r.spl? p.?
?/. - c.1139A>T r.(?) p.(Asp380Val)
-?/. - c.1349A>G r.(?) p.(Glu450Gly)
-/. - c.1500G>A r.(?) p.(Ala500=)
-?/. - c.1620_1621del r.(?) p.(*666Lysext*7)
-/. - c.1749A>G r.(?) p.(Pro583=)
-?/. - c.1749A>T r.(?) p.(Pro583=)
-?/. - c.1775C>T r.(?) p.(Ala592Val)
?/. - c.1876G>A r.(?) p.(Glu626Lys)
-?/. - c.1896C>T r.(?) p.(Ser632=)
?/. - c.1995_1996del r.(?) p.(Ter666LysextTer7)
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