Transcript #00024226 (NM_177438.2, DICER1 gene)

Transcript name transcript variant 1
Gene name DICER1 (dicer 1, ribonuclease type III)
Chromosome 14
Transcript - NCBI ID NM_177438.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_803187.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

231 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.20A>G r.(?) p.(Gln7Arg)
-?/. - c.20A>G r.(?) p.(Gln7Arg)
-?/. - c.20A>G r.(?) p.(Gln7Arg)
-?/. - c.20A>G r.(?) p.(Gln7Arg)
+/? 4 c.328_338dup r.(?) p.(Gln249Serfs*23)
?/. - c.383A>C r.(?) p.(Glu128Ala)
-?/. - c.439-7A>T r.(=) p.(=)
-?/. - c.439-7A>T r.(=) p.(=)
-?/. - c.485G>A r.(?) p.(Gly162Asp)
+/? 5 c.559C>T r.(?) p.(Arg187*)
+/. - c.734+1G>C r.spl? p.?
+/? 7 c.745C>T r.(?) p.(Gln249*)
+/? 7 c.876_879del r.0 p.0
+/? 8 c.912_919dup r.(?) p.(Arg307Glnfs*8)
+/? 8 c.1128_1132del r.(?) p.(Lys376Asnfs*11)
+?/? 8 c.1144G>T r.(?) p.(Glu382*)
+/. - c.1144G>T r.(?) p.(Glu382Ter)
+/? 8 c.1153del r.(?) p.(Arg385Alafs*73)
+/? 8 c.1165_1174dup r.(?) p.(Arg392Profs*3)
+/. - c.1180C>T r.(?) p.(Gln394Ter)
+/? 8 c.1196_1197dup r.(?) p.(Trp400Serfs*59)
+/? 8 c.1196_1197dup r.(?) p.(Trp400Serfs*59)
+?/? 8 c.1198dup r.(?) p.(Trp400Leufs*3)
+/. - c.1198dup r.(?) p.(Trp400LeufsTer3)
+/? 8 c.1284del r.(?) p.(K429Afs*47)
+/? 8 c.1306dup r.(?) p.(Ser436Phefs*41)
+/? 8i c.1376+1G>T r.(spl?) p.(Leu303Aspfs*16)
-/. 8i c.1377-4T>G r.(?) p.(=)
?/. - c.1377-4T>G r.(?) p.(?)
-?/. - c.1377-4T>G r.spl? p.?
+/? 9 c.1383_1386del r.(?) p.(Ile461Metfs*18)
+/? 9 c.1498A>T r.(?) p.(Lys500*)
+?/? 9 c.1498A>T r.(?) p.(Lys500*)
+/. - c.1498A>T r.(?) p.(Lys500Ter)
+/? 9 c.1507G>T r.1507g>u p.Glu503*
?/. - c.1509G>A r.(?) p.(Glu503=)
?/? 9 c.1509G>A r.(spl?) p.(?)
-?/. - c.1509+10A>G r.(=) p.(=)
-?/. - c.1510-4del r.spl? p.?
+/. - c.1525C>T r.(?) p.(Arg509Ter)
+/? 10 c.1525C>T r.(?) p.(Arg509*)
+/? 10 c.1532_1533del r.(?) p.(His511Argfs*16)
+/? 10 c.1630C>T r.(?) p.(Arg544*)
+/? 10 c.1684_1685del r.(?) p.(Met562Valfs*11)
+/? 10 c.1716del r.(?) p.(Phe572Leufs*15)
+/? 10 c.1716del r.(?) p.(Phe572Leufs*15)
-?/. - c.1800C>T r.(?) p.(Asp600=)
+/? 11 c.1801_1805dup r.(?) p.(Asp602Glufs*17)
+/. - c.1907+1G>A r.spl? p.?
+/? 12 c.1910dup r.(?) p.(Tyr637*)
-/. - c.1935G>A r.(?) p.(Pro645=)
-/. - c.1935G>A r.(?) p.(Pro645=)
+/? 12 c.1966C>T r.(?) p.(Arg656*)
+/? 12 c.1966C>T r.(?) p.(Arg656*)
+/? 12 c.1966C>T r.(?) p.(Arg656*)
+/? 12 c.1966C>T r.(?) p.(Arg656*)
+/? 12 c.2026C>T r.(?) p.(Arg676*)
+/? 12 c.2026C>T r.(?) p.(Arg676*)
+/. - c.2026C>T r.(?) p.(Arg676*)
+/? 12i c.2040+1G>T r.(spl?) p.(Tyr637Valfs*4)
+/? 12i c.2040+1G>T r.(spl?) p.(Tyr637Valfs*4)
?/. - c.2040+5G>A r.(?) p.(?)
?/. - c.2108A>G r.(?) p.(His703Arg)
+/? 13i c.2117-1G>A r.0 (NMD) p.0
-?/. - c.2209C>T r.(?) p.(Pro737Ser)
+/. - c.2233C>T r.(?) p.(Arg745Ter)
+?/? 14 c.2233C>T r.(?) p.(Arg745*)
+/? 14 c.2236A>G r.(?) p.(Arg746Gly)
+/? 14 c.2245_2248dup r.2245_2248dup p.Pro750Leufs*12
+/? 14 c.2246_2247insACTA r.(?) p.(Tyr749*)
+/? 14 c.2247C>A r.2247c>a p.Tyr749*
+?/? 14i c.2256+1G>C r.(spl?) p.(?)
+/. - c.2256+1G>C r.spl? p.?
?/? 14i c.2257-7A>G r.(spl?) p.(?)
?/. - c.2257-7A>G r.(=) p.(=)
+/? 15 c.2268_2271del r.(?) p.(Cys756*)
-?/. - c.2370G>A r.(?) p.(Arg790=)
-/. - c.2370G>A r.(?) p.(Arg790=)
+/? 15 c.2379T>G r.0 (NMD) p.0
+/? 15 c.2392dup r.2392dup p.Thr798Asnfs*33
+?/. - c.2414T>C r.(?) p.(Leu805Pro)
?/. - c.2436+4_2436+7del r.spl? p.?
+?/? 16 c.2450del r.(?) p.(Pro817Leufs*15)
+/. - c.2450del r.(?) p.(Pro817LeufsTer15)
+/? 16 c.2457C>G r.2437_2457del p.Ile813_Tyr819del
?/. - c.2461C>T r.(?) p.(Arg821Cys)
+/? 16 c.2516C>T r.2516c>u p.Ser839Phe
+/. - c.2524del r.(?) p.(Met842CysfsTer4)
+/. - c.2524del r.(?) p.(Met842CysfsTer4)
?/. - c.2651-14T>G r.(=) p.(=)
-?/. - c.2658C>T r.(?) p.(Asp886=)
+?/? 17 c.2748del r.(?) p.(Glu917Lysfs*8)
+/. - c.2748del r.(?) p.(Glu917LysfsTer8)
+/? 17i c.2805-1G>T r.2805_2987del p.Tyr936_Arg996del
+/? 18 c.2825del r.(?) p.(Pro942Leufs*6)
+/? 18 c.2830C>T r.(?) p.(Arg944*)
+/? 18 c.2863dup r.(?) p.(Thr955Asnfs*5)
+/? 18i c.2988-2_2988-1inv r.(spl?) p.(Leu997Tyrfs*34)
-/. - c.2997T>G r.(?) p.(Leu999=)
-/. - c.3033G>A r.(?) p.(Ala1011=)
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