Transcript #00014799 (NM_000475.4, NR0B1 gene)

Transcript name nuclear receptor subfamily 0, group B, member 1
Gene name NR0B1 (nuclear receptor subfamily 0, group B, member 1)
Chromosome X
Transcript - NCBI ID NM_000475.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000466.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

168 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/+ _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0
?/. _1_2_ c.(?_-1)_(*1_?)dup r.? p.?
+/+ _1_2_ c.0 r.0 p.0
+/. - c.0 r.0 p.0
+/. - c.0 r.0 p.0
+/+ _1_2_ c.0 r.0 p.0
+/+ _1_2_ c.0 r.0 p.0
+/+ _1_2_ c.0 r.0 p.0
+/+ _1_2_ c.0 r.0 p.0
+/+ _1_2_ c.0 r.0 p.0
+/+ _1_2_ c.0 r.0 p.0
+/+ _1_2_ c.0 r.0 p.0
+/+ _1_2_ c.0 r.0 p.0
+/+ _1_2_ c.0 r.0 p.0
+/. _1_2_ c.0 r.0 p.0
+/. - c.0 r.0 p.0
+/. - c.0 r.0 p.0
-?/. - c.16C>A r.(?) p.(His6Asn)
+/. 1 c.109C>T r.(?) p.(Gln37*)
?/. 1 c.114C>T r.(?) p.(=)
-/. - c.114C>T r.(?) p.(Cys38=)
+/. 1 c.116G>A r.(?) p.(Trp39*)
+/. 1 c.119del r.(?) p.(Gly40AlafsTer45)
+/. 1 c.129C>A r.(?) p.(Cys43*)
+/. 1 c.145del r.(?) p.(Val49TrpfsTer36)
+/. 1 c.155_156del r.(?) p.fs*
-?/. - c.174G>A r.(?) p.(Arg58=)
+/. 1 c.243C>G r.(?) p.(Tyr81*)
+/. 1 c.273C>A r.(?) p.(Tyr91*)
+/. 1 c.273_274delinsT r.(?) p.fs*
+/. - c.315G>T r.(?) p.(Trp105Cys)
+/. 1 c.315_316insT r.(?) p.fs*
+/. - c.323C>A r.(?) p.(Ser108Ter)
+/. 1 c.327C>A r.(?) p.(Cys109*)
-?/. - c.339C>A r.(?) p.(Pro113=)
+/. 1 c.343del r.(?) p.(Val115TrpfsTer149)
+/. 1 c.373_376dup r.(?) p.fs*
-?/. - c.376G>A r.(?) p.(Val126Met)
-?/. - c.376G>A r.(?) p.(Val126Met)
?/. 1 c.376G>A r.(?) p.(Val126Met)
-/. - c.376G>A r.(?) p.(Val126Met)
+/. 1 c.390C>A r.(?) p.(Tyr130*)
+/. 1 c.395dup r.(?) p.(Cys132TrpfsTer6)
+/. 1 c.404del r.(?) p.(Cys135Leufs*129)
+/. 1 c.405del r.(?) p.(Cys135TrpfsTer129)
+/. 1 c.416dup r.(?) p.(His139GlnfsTer14)
+/. 1 c.423del r.(?) p.(Gln142ArgfsTer122)
+/. 1 c.441C>G r.(?) p.(Tyr147*)
+/. 1 c.457del r.(?) p.(Ser153GlnfsTer111)
+/. 1 c.458C>G r.(?) p.(Ser153*)
?/. - c.469C>T r.(?) p.(His157Tyr)
+/. 1 c.477del r.(?) p.(Pro160ArgfsTer104)
+/. 1 c.495_496dup r.(?) p.fs*
-?/. - c.497G>T r.(?) p.(Arg166Leu)
+/. 1 c.498G>A r.(?) p.(=)
-/. - c.498G>A r.(?) p.(Arg166=)
-/. - c.498G>A r.(?) p.(Arg166=)
+/. 1 c.501del r.(?) p.(Gly169AlafsTer95)
+/. 1 c.512G>A r.(?) p.(Trp171*)
+/. 1 c.513G>A r.(?) p.(Trp171*)
+/. 1 c.513G>A r.(?) p.(Trp171*)
+/. 1 c.516G>A r.(?) p.(Trp172*)
+/. 1 c.518_540del r.(?) p.fs*
-?/. - c.521G>C r.(?) p.(Arg174Pro)
?/. - c.527A>G r.(?) p.(Tyr176Cys)
+/. 1 c.543del r.(?) p.(Gly183ValfsTer81)
+/. 1 c.545_546insACCC r.(?) p.fs*
+/. 1 c.548del r.(?) p.(Gly183ValfsTer81)
+/. 1 c.548dup r.(?) p.(Lys184Ter)
+/. 1 c.551_552del r.(?) p.fs*
+/. 1 c.564_567dup r.(?) p.fs*
+/. 1 c.573_574insCCGG r.(?) p.(Ala191Profs*14)
+/. 1 c.585delinsCC r.(?) p.fs*
+/. 1 c.591C>A r.(?) p.(Tyr197*)
+/. 1 c.591C>A r.(?) p.(Tyr197*)
-?/. - c.600C>G r.(?) p.(Cys200Trp)
-?/. - c.600C>G r.(?) p.(Cys200Trp)
+/. 1 c.629del r.(?) p.(Gly210AlafsTer54)
+/. 1 c.629dup r.(?) p.(Ser211GlnfsTer88)
+/. 1 c.702del r.(?) p.(Trp235GlyfsTer29)
+/. 1 c.704G>A r.(?) p.(Trp235*)
+/. 1 c.704G>A r.(?) p.(Trp235*)
+/. 1 c.704G>A r.(?) p.(Trp235*)
+/. 1 c.708G>A r.(?) p.(Trp236*)
+/. - c.728_734del r.(?) p.(Leu243ArgfsTer19)
+/. 1 c.739dup r.(?) p.(Ala247Glyfs*52)
+/. 1 c.752_762del r.(?) p.(Pro251LeufsTer44)
+/. 1 c.754C>T r.(?) p.(Gln252*)
+/. 1 c.754del r.(?) p.(Gln252ArgfsTer12)
+/. - c.765C>A r.(?) p.(Cys255Ter)
+/. 1 c.772_773insACCCTCAGCGGGC r.(?) p.fs*
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