Transcript #00005721 (NM_006891.3, CRYGD gene)

Transcript name crystallin, gamma D
Gene name CRYGD (crystallin, gamma D)
Chromosome 2
Transcript - NCBI ID NM_006891.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_008822.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. 3 c.? r.(?) p.(=)
?/. - c.-36437G>T r.(?) p.(=)
?/. - c.-21419T>C r.(?) p.(=)
?/. - c.-21374G>A r.(?) p.(=)
?/. - c.-21372G>A r.(?) p.(=)
-/. - c.-21361T>C r.(?) p.(=)
-?/. - c.-21333G>A r.(?) p.(=)
-?/. - c.-21322C>T r.(?) p.(=)
-?/. - c.-21301G>A r.(?) p.(=)
-?/. - c.-18369C>T r.(?) p.(=)
-?/. - c.-18166G>A r.(?) p.(=)
+?/. - c.-5319A>G r.(?) p.(=)
+?/. - c.-5159_-5157del r.(?) p.(=)
-/. - c.-5100C>T r.(?) p.(=)
-?/. - c.-5068A>G r.(?) p.(=)
+/. - c.-5066_-5057del r.(?) p.(=)
-?/. - c.-5044G>A r.(?) p.(=)
?/. - c.-4990G>A r.(?) p.(=)
-?/. - c.-3938G>A r.(?) p.(=)
+?/. - c.-3870G>T r.(?) p.(=)
-?/. - c.-3853C>T r.(?) p.(=)
?/. - c.-3830G>A r.(?) p.(=)
+/. - c.-3785G>A r.(?) p.(=)
?/. - c.-3782G>A r.(?) p.(=)
?/. - c.-3758C>G r.(?) p.(=)
-?/. - c.10-7C>G r.(=) p.(=)
+?/. - c.19T>C r.(?) p.(Tyr7His)
+/. 2 c.43C>A r.(?) p.(Arg15Ser)
+/. 2 c.43C>T r.(?) p.(Arg15Cys)
+/. 2 c.43C>T r.(?) p.(Arg15Cys)
-/. 2 c.51T>C r.(?) p.(=)
-/. 2 c.51T>C r.(?) p.(=)
-/. 2 c.51T>C r.(?) p.(=)
-/. 2 c.51T>C r.(?) p.(=)
-/. 2 c.51T>C r.(?) p.(=)
-/. 2 c.51T>C r.(?) p.(=)
-/. 2 c.51T>C r.(?) p.(=)
-/. 2 c.51T>C r.(?) p.(=)
-/. - c.51T>C r.(?) p.(Tyr17=)
-/. - c.51T>C r.(?) p.(Tyr17=)
-?/. - c.63C>T r.(?) p.(Ser21=)
+?/. 2 c.70C>A r.(?) p.(Pro24Thr)
+?/. 2 c.70C>A r.(?) p.(Pro24Thr)
+?/. 2 c.70C>A r.(?) p.(Pro24Thr)
+?/. 2 c.70C>A r.(?) p.(Pro24Thr)
+/. 2 c.70C>A r.(?) p.(Pro24Thr)
+/. 2 c.70C>A r.(?) p.(Pro24Thr)
+/. 2 c.70C>A r.(?) p.(Pro24Thr)
+/. 2 c.70C>A r.(?) p.Pro24Thr
+/. 2 c.70C>A r.(?) p.Pro24Thr
+/. 2 c.70C>A r.(?) p.(Pro24Thr)
+?/. - c.70C>A r.(?) p.(Pro24Thr)
+/. 2 c.70C>T r.(?) p.(Pro24Ser)
-/. 2 c.81G>A r.(=) p.(Gln27=)
-/. 2 c.81G>A r.(?) p.(Gln27=)
-/. 2 c.81G>A r.(?) p.(Gln27=)
+/. 2 c.104C>T r.(?) p.(Ser35Leu)
+?/. 2 c.109C>A r.(?) p.(Arg37Ser)
+?/. 2 c.109C>A r.(?) p.(Arg37Ser)
+/. 2 c.109C>A r.(?) p.(Arg37Ser)
+/. 2 c.109C>A r.(?) p.Arg37Ser
+?/. 2 c.110G>C r.(?) p.(Arg37Pro)
+?/. 2 c.110G>C r.(?) p.(Arg37Pro)
+?/. 2 c.110G>C r.(?) p.(Arg37Pro)
+?/. 2 c.110G>C r.(?) p.(Arg37Pro)
+?/. 2 c.110G>C r.(?) p.(Arg37Pro)
+?/. - c.127T>C r.(?) p.(Trp43Arg)
-?/. - c.130A>G r.(?) p.(Met44Val)
+/. 2 c.168C>G r.(?) p.(Tyr56*)
+/. 2 c.168C>G r.(?) p.(Tyr56*)
+/. 2 c.168C>G r.(?) p.(Tyr56*)
-/. - c.168C>G r.(?) p.(Tyr56Ter)
+/. 2 c.176G>A r.(?) p.(Arg59His)
+/. 2 c.176G>A r.(?) p.(Arg59His)
+/. 2 c.176G>A r.(?) p.(Arg59His)
+/. 2 c.181G>T r.(?) p.(Gly61Cys)
-?/. - c.188A>G r.(?) p.(Tyr63Cys)
+/+ 2 c.229C>A c.229C>A p.Arg77Ser
-?/. - c.240C>T r.(?) p.(Arg80=)
-?/. - c.252+7A>G r.(=) p.(=)
-/. 2i c.252+30C>T r.(?) p.(=)
-/. 2i c.252+83T>C r.(?) p.(=)
-/. 3 c.285A>G r.(?) p.(=)
-/. 3 c.285A>G r.(?) p.(=)
-/. 3 c.285A>G r.(?) p.(=)
-/. 3 c.285A>G r.(?) p.(=)
-/. 3 c.285A>G r.(?) p.(=)
-/. 3 c.285A>G r.(?) p.(=)
-/. 3 c.285A>G r.(?) p.(=)
-/. 3 c.285A>G r.(?) p.(=)
-/. 3 c.285A>G r.(?) p.(Arg95=)
-/. - c.285A>G r.(?) p.(Arg95=)
+/. 3 c.320A>C r.(?) p.(Glu107Ala)
+/. 3 c.347del r.(?) p.(Phe116Serfs*31)
?/. - c.376G>A r.(?) p.(Val126Met)
+?/. 3 c.401A>G r.(?) p.(Tyr134Cys)
+?/. 3 c.401A>G r.(?) p.(Tyr134Cys)
+/. 3 c.402C>A r.(?) p.(Tyr134*)
-?/. - c.408G>A r.(?) p.(Leu136=)
+/. 3 c.418C>T r.(?) p.(Arg140*)
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