Transcript #00000090 (NM_005612.4, REST gene)

Transcript name RE1-silencing transcription factor, transcript variant 1
Gene name REST (RE1-silencing transcription factor)
Chromosome 4
Transcript - NCBI ID NM_005612.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_005603.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.274G>A r.(?) p.(Gly92Arg)
?/. - c.367C>G r.(?) p.(Pro123Ala)
-?/. - c.422C>G r.(?) p.(Pro141Arg)
+/. 2 c.479G>C r.(?) p.(Arg160Pro)
+/. 2 c.645del r.(?) p.(Ile216Phefs*20)
+/. 2 c.736C>T r.(?) p.(Arg246*)
+/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18)
+/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18)
+/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18)
+/. 2i c.899-2A>G r.spl p.?
+/. 3 c.965A>G r.(?) p.(His322Arg)
+/. 3 c.965A>G r.(?) p.(His322Arg)
?/. - c.968T>G r.(?) p.(Met323Arg)
+/. 3 c.977dup r.(?) p.(His326Glnfs*4)
?/. - c.1151T>G r.(?) p.(Val384Gly)
+/. 4 c.1236T>A r.(?) p.(His412Gln)
-?/. - c.1615T>C r.(?) p.(Ser539Pro)
-?/. - c.2013G>T r.(?) p.(Glu671Asp)
-?/. - c.2206C>T r.(?) p.(Pro736Ser)
-/. - c.2229_2276del r.(?) p.(Gln746_Val761del)
?/. 4 c.2390C>T r.(?) p.(Pro797Leu)
?/. - c.2509C>G r.(?) p.(Leu837Val)
+/. 4 c.2770C>T r.(?) p.(Gln924*)
?/. - c.3007C>A r.(?) p.(Gln1003Lys)
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