Transcript #00019429 (NM_003079.4, SMARCE1 gene)

Transcript name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Gene name SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1)
Chromosome 17
Transcript - NCBI ID NM_003079.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_003070.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

45 entries on 1 page. Showing entries 1 - 45.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-45-8del r.(=) p.(=)
-?/. - c.-45-7A>T r.(=) p.(=)
+/. _1_11_ c.(?_-1)_(*1_?)del r.0? p.0?
-?/. - c.132C>G r.(?) p.(Asn44Lys)
?/. 4i_6i c.(156+1_157-1)_(369+1_370-1)del r.spl? p.?
?/. 4i_6i c.(156+1_157-1)_(369+1_370-1)del r.spl? p.?
?/. 4i_6i c.(156+1_157-1)_(369+1_370-1)del r.spl? p.?
?/. 4i_6i c.(156+1_157-1)_(369+1_370-1)del r.spl? p.?
?/. - c.206C>T r.(?) p.(Pro69Leu)
+/. 5 c.218A>C r.(?) p.(Tyr73Ser)
?/. 5 c.218A>G r.(?) p.(Tyr73Cys)
+/. 5 c.218A>G r.(?) p.(Tyr73Cys)
?/. 5i c.237+2T>C r.spl? p.(=)
?/. 5i c.237+2T>C r.spl? p.(=)
+/. 6 c.242G>A r.(?) p.(Trp81*)
?/. 6 c.275dup r.(?) p.(Leu93ValfsTer17)
+?/. - c.276G>C r.(?) p.(Lys92Asn) †
+/. 6 c.281G>A r.(?) p.(Trp94*)
-?/. - c.300T>A r.(?) p.(Ile100=)
?/. 6 c.311G>A r.(?) p.(Trp104*)
?/. 6 c.314G>A r.(?) p.(Arg105Gln)
+/. 6 c.314G>A r.(?) p.(Arg105Gln)
-?/. - c.351C>T r.(?) p.(Asn117=)
?/. 6 c.374_395inv r.(?) p.(Glu125_Ala132delinsGlyLeuHisArgPheIleValLeu)
?/. 6 c.374_395inv r.(?) p.(Glu125_Ala132delinsGlyLeuHisArgPheIleValLeu)
?/. 6 c.374_395inv r.(?) p.(Glu125_Ala132delinsGlyLeuHisArgPheIleValLeu)
?/. 6 c.376T>G r.(?) p.(Tyr126Asp)
?/. 7 c.572dup r.(?) p.(Ala192SerfsTer14)
?/. 7 c.572dup r.(?) p.(Leu192Profs*18)
?/. 7 c.572dup r.(?) p.(Leu192Profs*18)
?/. 9 c.715C>T r.(?) p.(Arg239*)
?/. 9 c.715C>T r.(?) p.(Arg239*)
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5)
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5)
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5)
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5)
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5)
-?/. - c.817-9dup r.(=) p.(=)
?/. - c.862G>A r.(?) p.(Glu288Lys)
-?/. - c.1079G>A r.(?) p.(Gly360Asp)
?/. - c.1079G>A r.(?) p.(Gly360Asp)
-/. - c.1079G>A r.(?) p.(Gly360Asp)
-?/. - c.1079G>A r.(?) p.(Gly360Asp)
-?/. - c.1079G>A r.(?) p.(Gly360Asp)
-?/. - c.1122C>T r.(?) p.(Val374=)
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