Transcript #00025608 (NM_014249.3, NR2E3 gene)

Transcript name transcript variant 2
Gene name NR2E3 (nuclear receptor subfamily 2, group E, member 3)
Chromosome 15
Transcript - NCBI ID NM_014249.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055064.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

424 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. 8 c.*360_*364del r.(=) p.(=)
?/. 8 c.*53C>T r.(=) p.(=)
+/. - c.166G>M r.(?) p.(Gly56Arg)
+/. - c.-4474001_*89057del r.0? p.0?
-?/. - c.25A>G r.(?) p.(Met9Val)
?/. 1 c.67G>C r.(?) p.(A23P)
-?/. - c.69C>T r.(?) p.(Ala23=)
-?/. - c.94T>G r.(?) p.(Trp32Gly)
+/. - c.95G>A r.(?) p.(Trp32Ter)
+/. 1 c.95G>A r.(?) p.(W32X)
+/. 1 c.118-2A>C r.(?) p.?
+/. 1 c.118-2A>C r.(?) p.?
-/. - c.118+226T>C r.(=) p.(=)
+/. - c.119-57_166del r.spl? p.?
+/. - c.119-57_166del r.spl p.?
-/- 1i c.119-47C>T r.(=) p.(=)
-/- 1i c.119-28T>C r.(=) p.(=)
-/- 1i c.119-28_119-13del r.(=) p.(=)
-/- 1i c.119-27_119-12del r.(=) p.(=)
-/- 1i c.119-27_119-12dup r.(=) p.(=)
+/+ 1i c.119-3C>G r.(119_245del) p.(Val41Aalfs*23)
+/. - c.119-2A>C r.spl p.(?)
+/. - c.119-2A>C r.(?) p.(?)
+/. - c.119-2A>C r.spl p.?
+/. - c.119-2A>C r.spl p.(?)
+?/. - c.119-2A>C r.spl p.?
+?/. - c.119-2A>C r.spl p.?
+/. - c.119-2A>C r.spl? p.?
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+?/. 1i c.119-2A>C r.(?) p.(?)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/. - c.119-2A>C r.spl? p.?
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/. - c.119-2A>C r.spl? p.?
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+?/. - c.119-2A>C r.spl p.?
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+?/. - c.119-2A>C r.spl p.?
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+/+ 1i c.119-2A>C r.(119_245del) p.(Val41Aalfs*23)
+?/. 1i c.119-2A>C r.(?) p.(?)
+/. 1i c.119-2A>C r.spl p.?
+/. 1i c.119-2A>C r.spl? p.?
+?/. 1i c.119-2A>C r.(?) p.(?)
+/. - c.119-2A>C r.spl? p.?
+?/. - c.119-2A>C r.spl p.?
+/. 1i c.119-2A>C r.spl p.(?)
?/. 1i c.119-2A>C r.spl? p.?
+?/. - c.119-2A>C r.spl p.?
+/. 1i c.119-2A>C r.spl p.?
+/. 1i c.119-2A>C r.spl p.?
+/. - c.119-2A>C r.spl p.?
+/. 2 c.119-2A>C r.spl p.(?)
+?/. - c.119-2A>C r.spl p.?
+?/. - c.119-2A>C r.spl p.(?)
+?/. - c.119-2A>C r.spl p.?
+/. - c.119-2A>C r.spl p.?
+/. - c.119-2A>C r.spl p.?
+?/. 1i c.119-2A>C r.(?) p.(?)
+?/. - c.119-2A>C r.spl p.?
+/. - c.119-2A>C r.spl p.?
+/. - c.119-2A>C r.spl p.?
+/. - c.119-2A>C r.spl p.?
?/. - c.121G>A r.(?) p.(Val41Met)
+/+ 2 c.131C>A r.(?) p.(S44*)
?/. - c.131C>T - p.?
?/. 2 c.131C>T r.(?) p.(S44L)
?/. - c.131C>T r.(?) p.(Ser44Leu)
-?/. - c.135C>A r.(?) p.(Leu45=)
+/+ 2 c.142C>T r.(?) p.(R48C)
?/. - c.143G>A - p.?
+/. 2 c.143_144delGCins25 r.(?) p.?
+/. 2 c.143_144delGCins25 r.(?) p.?
+/+ 2 c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA r.(?) p.(Arg48Glnfs66*)
?/. - c.145G>A r.(?) p.(Val49Met)
+/+ 2 c.145G>A r.(?) p.V49M
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