Transcript #00014315 (NM_002485.4, NBN gene)

Transcript name nibrin
Gene name NBN (nibrin)
Chromosome 8
Transcript - NCBI ID NM_002485.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_002476.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

892 entries on 9 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. 1 c.-2C>T r.(?) p.(=)
+?/. - c.2T>C r.(?) p.(Met1?)
?/. - c.2T>C r.? p.?
?/. - c.8A>G r.(?) p.(Lys3Arg)
?/. - c.11T>C r.(?) p.(Leu4Pro)
?/. - c.11T>G r.(?) p.(Leu4Arg)
?/. - c.16C>T r.(?) p.(Pro6Ser)
?/. - c.16C>T r.(?) p.(Pro6Ser)
?/. - c.18C>G r.(?) p.(=)
?/. 1 c.18C>G r.(?) p.(=)
?/. 1 c.18C>G r.(?) p.(=)
?/. - c.19G>A r.(?) p.(Ala7Thr)
?/. - c.26G>A r.(?) p.(Gly9Asp)
?/. - c.32C>T r.(?) p.(Ala11Val)
?/. 1 c.32C>T r.(?) p.(Ala11Val)
?/. 1 c.32C>T r.(?) p.(Ala11Val)
?/. - c.36A>C r.(?) p.(=)
+?/. - c.37+1G>A r.spl? p.?
-/. - c.37+5G>A r.spl? p.?
-?/. - c.38-10T>A r.(=) p.(=)
?/. - c.38-2A>G r.spl? p.?
?/. 1 c.40_42del r.(?) p.(Glu14del)
?/. - c.42A>C r.(?) p.(Glu14Asp)
?/. 1 c.52C>T r.(?) p.(Leu18Phe)
?/. - c.55_56del r.(?) p.(Leu19Aspfs*4)
?/. - c.55_56del r.(?) p.(Leu19Aspfs*4)
?/. - c.60del r.(?) p.(Gly21Alafs*14)
?/. - c.64G>A r.(?) p.(Val22Ile)
?/. - c.64G>A r.(?) p.(Val22Ile)
?/. - c.68A>T r.(?) p.(Glu23Val)
?/. - c.70T>C r.(?) p.(Tyr24His)
?/. - c.73G>A r.(?) p.(Val25Ile)
?/. - c.73G>A r.(?) p.(Val25Ile)
?/. - c.75dup r.(?) p.(Val26Cysfs*11)
?/. - c.77T>C r.(?) p.(Val26Ala)
?/. - c.82A>G r.(?) p.(Arg28Gly)
?/. - c.83G>A r.(?) p.(Arg28Lys)
?/. 1 c.84G>T r.(?) p.(Arg28Ser)
?/. - c.85A>G r.(?) p.(Lys29Glu)
?/. - c.88_89del r.(?) p.(Asn30Leufs*6)
?/. - c.88_89del r.(?) p.(Asn30Leufs*6)
?/. - c.86A>G r.(?) p.(Lys29Arg)
?/. - c.88A>C r.(?) p.(Asn30His)
?/. - c.88A>G r.(?) p.(Asn30Asp)
?/. - c.91T>C r.(?) p.(Cys31Arg)
?/. - c.91T>C r.(?) p.(Cys31Arg)
-/. - c.102G>A r.(?) p.(=)
-/. - c.102G>A r.(?) p.(=)
-/. 1 c.102G>A r.(?) p.(Leu34=)
-/. - c.102G>A r.(?) p.(Leu34=)
-/. - c.102G>A r.(?) p.(=)
-/. - c.102G>A r.(?) p.(=)
-/. - c.102G>A r.(?) p.(Leu34=)
-/. - c.102G>A r.(?) p.(Leu34=)
-/. - c.102G>A r.(?) p.(=)
-/. - c.102G>A r.(?) p.(=)
-/. 1 c.102G>A r.(?) p.(=)
-/. 1 c.102G>A r.(?) p.(=)
?/. - c.104T>C r.(?) p.(Ile35Thr)
?/. - c.104T>C r.(?) p.(Ile35Thr)
?/. - c.104T>C r.(?) p.(Ile35Thr)
?/. 1 c.104T>C r.(?) p.(Ile35Thr)
?/. - c.104T>C r.(?) p.(Ile35Thr)
?/. - c.105T>A r.(?) p.(=)
?/. - c.105T>G r.(?) p.(Ile35Met)
?/. - c.105T>G r.(?) p.(Ile35Met)
?/. - c.111T>A r.(?) p.(Asn37Lys)
?/. - c.113A>T r.(?) p.(Asp38Val)
?/. - c.113A>T r.(?) p.(Asp38Val)
?/. - c.115C>T r.(?) p.(Gln39*)
?/. - c.116A>G r.(?) p.(Gln39Arg)
?/. - c.119C>T r.(?) p.(Ser40Leu)
?/. - c.119C>T r.(?) p.(Ser40Leu)
?/. - c.120G>A r.(?) p.(=)
?/. - c.121A>T r.(?) p.(Ile41Phe)
?/. - c.121A>T r.(?) p.(Ile41Phe)
?/. - c.133C>G r.(?) p.(His45Asp)
?/. 1 c.133C>T r.(?) p.(His45Tyr)
?/. - c.134A>G r.(?) p.(His45Arg)
?/. 1 c.138T>C r.(?) p.(=)
?/. - c.140T>C r.(?) p.(Val47Ala)
?/. - c.146C>T r.(?) p.(Thr49Ile)
?/. - c.146C>T r.(?) p.(Thr49Ile)
?/. - c.148G>A r.(?) p.(Ala50Thr)
?/. 1 c.151A>T r.(?) p.(Asn51Tyr)
?/. - c.157dup r.(?) p.(Ser53Phefs*10)
?/. - c.157dup r.(?) p.(Ser53Phefs*10)
?/. - c.156_157del r.(?) p.(Ser53Cysfs*9)
?/. - c.156_157del r.(?) p.(Ser53Cysfs*9)
?/. - c.160G>A r.(?) p.(Val54Ile)
?/. - c.168C>G r.(?) p.(Asn56Lys)
?/. - c.171+1G>A r.spl? p.?
+?/. - c.171+1G>A r.spl? p.?
?/. - c.179C>A r.(?) p.(Thr60Lys)
?/. - c.181_182del r.(?) p.(Asp61*)
?/. - c.181G>A r.(?) p.(Asp61Asn)
?/. 1 c.181G>A r.(?) p.(Asp61Asn)
?/. - c.182A>G r.(?) p.(Asp61Gly)
?/. - c.188T>A r.(?) p.(Ile63Asn)
?/. - c.190C>T r.(?) p.Pro64Ser
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