Transcript #00005647 (NM_201253.2, CRB1 gene)

Transcript name transcript variant 1
Gene name CRB1 (crumbs homolog 1 (Drosophila))
Chromosome 1
Transcript - NCBI ID NM_201253.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_957705.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

2082 entries on 21 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.? r.(?) p.?
+?/. - c.? r.? p.?
+?/. - c.? r.? p.?
?/. - c.? r.(?) p.?
+?/+? - c.? r.? p.?
+?/. - c.? r.? p.?
+?/. - c.? r.? p.?
-/. - c.? r.(?) p.?
-/. - c.? r.(?) p.?
-/. - c.? r.(?) p.?
-/. - c.? r.(?) p.?
-/. - c.? r.(?) p.?
+/. - c.? r.? p.?
?/. - c.-68771C>T r.(?) p.(=)
?/. - c.-68724_-68720del r.(?) p.(=)
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0
+/. 1 c.2T>C r.(?) p.(?)
-/. 1 c.14A>G r.(?) p.(Asn5Ser)
-/. 1 c.27T r.(?) p.?
?/. - c.40C>T r.(?) p.(Leu14Phe)
+?/. - c.57dup r.(?) p.(Ile20Tyrfs*10)
+/. 1 c.57dup r.(?) p.(Ile20Tyrfs*10)
+?/. - c.70+1G>A r.spl p.(?)
+?/. 1i c.70+5G>A r.spl? p.(?)
+?/. - c.71-6239_849-326dup r.? p.?
-/. - c.71-12A>T r.(=) p.(=)
-/. - c.71-12A>T r.(=) p.(=)
+?/. 2 c.80G>C r.(?) p.(Cys27Ser)
+?/. 2 c.80G>T r.(?) p.(Cys27Phe)
+?/. 2 c.80G>T r.(?) p.(Cys27Phe)
+?/. 2 c.80G>T r.(?) p.(Cys27Phe)
+?/. 2 c.80G>T r.(?) p.(Cys27Phe)
+?/. 2 c.80G>T r.(?) p.(Cys27Phe)
+?/. 2 c.80G>T r.(?) p.(Cys27Phe)
+?/. 2 c.80G>T r.(?) p.(Cys27Phe)
+?/. 2 c.80G>T r.(?) p.(Cys27Phe)
+?/. 2 c.80G>T r.(?) p.(Cys27Phe)
+?/. - c.80G>T r.(?) p.(Cys27Phe)
+/. - c.83dup r.(?) p.(Asn28Lysfs*2)
+/. 2 c.93C>T r.(=) p.(=)
+/. 2 c.93C>T r.(=) p.(=)
?/. - c.99del r.(?) p.(Arg33SerfsTer38)
?/. - c.107C>A r.(?) p.(Ser36*)
+?/. - c.107C>G r.(?) p.(Ser36*)
+/. 2 c.107C>G r.(?) p.(Ser36*)
+/. 2 c.107C>G r.(?) p.(Ser36*)
+/. 2 c.112del r.(?) p.(Ser38Leufs*33)
+/. 2 c.112del r.(?) p.(Ser38Leufs*33)
+/. 2 c.112del r.(?) p.(Ser38Leufs*33)
?/. - c.135C>G r.(?) p.(Cys45Trp)
+?/. - c.135C>G r.(?) p.(Cys45Trp)
+?/. - c.135C>G r.(?) p.(Cys45Trp)
?/. - c.135C>G r.(?) p.(Cys45Trp)
?/. - c.135C>G r.(?) p.(Cys45Trp)
+?/. 2 c.135C>G r.(?) p.(Cys45Trp)
-?/. 2 c.135C>G r.(?) p.(Cys45Trp)
?/. - c.135C>G r.(?) p.(Cys45Trp)
+?/. 2 c.135C>G r.(?) p.(Cys45Trp)
+?/. 2 c.135C>G r.(?) p.(Cys45Trp)
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24)
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24)
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24)
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24)
+?/. - c.138del r.(?) p.(Asp47Ilefs*24)
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24)
+?/. 2 c.139del r.(?) p.(Asp47Ilefs*24)
+/. 2 c.139del r.(?) p.(Asp47Ilefs*24)
+/. - c.140dup r.(?) p.(Asp47Glufs*7)
-?/. - c.142T>A r.(?) p.(Phe48Ile)
?/. - c.161G>T r.(?) p.(Cys54Phe)
-?/. - c.207C>T r.(?) p.(Asn69=)
+/. 2 c.253_254insAA r.(?) p.(Cys85*)
+/. - c.254G>A r.(?) p.(Cys85Tyr)
+/. 2 c.257_258dup r.(?) p.(Asn87*)
+/. 2 c.257_258dup r.(?) p.(Asn87*)
+/. - c.257_258dup r.(?) p.(Asn87*)
+/. 2 c.257_258dup r.(?) p.(Asn87*)
+/. 2 c.257_258dup r.(?) p.(Asn87*)
+/. 2 c.257_258dup r.(?) p.(Asn87*)
-?/. - c.276G>C r.(?) p.(Arg92Ser)
-?/. - c.276G>C r.(?) p.(Arg92Ser)
+?/. 2 c.276_294delinsTGAACACTGTAC r.(?) p.(Arg92Serfs*54)
+?/. - c.276_294delinsTGAACACTGTAC r.(?) p.(Arg92Serfs*54)
?/. - c.278G>C r.(?) p.(Ser93Thr)
+/. - c.288C>A r.(?) p.(Cys96*)
+/. 2 c.358C>T r.(?) p.(Gln120*)
+/. 2 c.358C>T r.(?) p.(Gln120*)
+?/. - c.361del r.(?) p.(His121MetfsTer27)
+?/. - c.407G>A r.(?) p.(Cys136Tyr)
+/. 2 c.407G>A r.(?) p.(Cys136Tyr)
+?/. - c.407G>A r.(?) p.(Cys136Tyr)
+?/. - c.410del r.(?) p.(Pro137Leufs*11)
+/. 2 c.424G>T r.(?) p.(Gly142*)
+/. 2 c.424G>T r.(?) p.(Gly142*)
+/. - c.424G>T r.(?) p.(Gly142*)
+/. - c.424G>T r.(?) p.(Gly142*)
+/. 2 c.428_432del r.(?) p.(Arg143Metfs*2)
+?/. - c.428_432del r.(?) p.(Arg143Metfs*2)
+/. 2 c.428_432del r.(?) p.(Arg143Metfs*2)
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