Transcript #00025354 (NM_199189.2, MATR3 gene)

Transcript name transcript variant 1
Gene name MATR3 (matrin 3)
Chromosome 5
Transcript - NCBI ID NM_199189.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_954659.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

64 entries on 1 page. Showing entries 1 - 64.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-14781695_*7052201dup r.0? p.0?
+?/. - c.-339+2T>A r.spl p.?
?/. - c.-339+2T>A r.spl? p.?
+/. - c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
+/. 5 c.254C>G r.(?) p.(Ser85Cys)
-?/. - c.265A>G r.(?) p.(Ile89Val)
-?/. - c.747G>A r.(?) p.(Glu249=)
-/. 5i c.913-2598T>C r.(=) p.(=)
-/. 5 c.913-2535G>A r.(=) p.(=)
-/. 5i c.913-2535G>A r.(=) p.(=)
-?/. - c.975-7T>C r.(=) p.(=)
?/. - c.1130-5T>A r.spl? p.?
-?/. - c.1132G>A r.(?) p.(Ala378Thr)
-?/. - c.1183-5G>A r.spl? p.?
-/. - c.1602+6A>G r.(=) p.(=)
-?/. - c.1602+6A>G r.(=) p.(=)
-?/. - c.1602+6A>G r.(=) p.(=)
-?/. - c.1655G>T r.(?) p.(Cys552Phe)
-?/. - c.1893C>T r.(?) p.(Ser631=)
-?/. - c.1944T>G r.(?) p.(Pro648=)
?/. - c.1991A>C r.(?) p.(Glu664Ala)
-?/. - c.1991A>C r.(?) p.(Glu664Ala)
?/. - c.2047A>G r.(?) p.(Asn683Asp)
?/. - c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA r.spl? p.?
-?/. - c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA r.spl? p.?
-?/. - c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA r.spl? p.?
-?/. - c.2190G>A r.(?) p.(Ala730=)
-?/. - c.2191T>C r.(?) p.(Leu731=)
-?/. - c.2250C>T r.(?) p.(Asn750=)
?/. - c.2273C>G r.(?) p.(Thr758Arg)
-?/. - c.2273C>G r.(?) p.(Thr758Arg)
-?/. - c.2360A>G r.(?) p.(Asn787Ser)
-?/. - c.2360A>G r.(?) p.(Asn787Ser)
?/. - c.2400G>A r.(?) p.(Gly800=)
-?/. - c.2400G>A r.(?) p.(Gly800=)
?/. - c.2504A>G r.(?) p.(Asn835Ser)
?/. - c.2507A>C r.(?) p.(Lys836Thr)
?/. - c.2521C>T r.(?) p.(Arg841Cys)
?/. - c.2525G>C r.(?) p.(Arg842Thr)
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