Transcript #00001809 (NM_004247.3, EFTUD2 gene)

Transcript name transcript variant 1
Gene name EFTUD2 (elongation factor Tu GTP binding domain containing 2)
Chromosome 17
Transcript - NCBI ID NM_004247.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004238.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? - c.-170573_*136621del r.0? p.0?
+/+ _1_3i c.(-21750_-20742)_(271+479_272-1)del r.0? p.0?
+/+ _1_4i c.(-9700_-8742)_(350+150_351-400)del r.0? p.0?
-/. - c.-3457C>T r.(?) p.(=)
-?/. - c.-3434T>C r.(?) p.(=)
-/. - c.-2938G>T r.(?) p.(=)
-?/. - c.-1704C>T r.(?) p.(=)
?/. - c.-1669A>G r.(?) p.(=)
?/. - c.-497A>G r.(?) p.(=)
+/. _1_28_ c.0 r.0 p.0
+/+? 18 c.[1859A>T;1860+3_1860+4delinsGAG] r.1720_1860 p.Ala574_Lys620del
+/+ - c.[427-2delA;427-7C>T] r.spl? p.?
+/+ 2 c.12del r.(?) p.Leu5Tyrfs*41
+/+ 2 c.105G>A r.7_111del p.Thr3_Asp37del
-?/. - c.106-9T>C r.(=) p.(=)
-?/. - c.106-8G>C r.(=) p.(=)
+/+ - c.106-2A>G r.spl? p.?
+?/? 3 c.198C>G r.(?) p.(Tyr66*)
+/+ 3 c.208G>T r.(?) p.Glu70*
+?/. 3i c.271+1G>A r.spl p.?
+/+ 4 c.272-9_282del r.272_350del p.Glu91Valfs*6
+/. - c.291_292insT r.(?) p.(Lys98Ter)
+/. - c.334dup r.(?) p.(Thr112AsnfsTer4)
+/. - c.350+1G>A r.spl? p.?
+?/+? i4 c.351-1G>A r.spl? p.?
+?/? 4i c.351-1G>C r.spl? p.?
+/. - c.380_381del r.(?) p.(Glu127AlafsTer24)
-/. - c.426+8G>A r.(=) p.(=)
-/. - c.426+8G>A r.(=) p.(=)
-/. - c.426+8G>A r.(=) p.(=)
+/. 5 c.428C>T r.(?) p.(Thr143Ile)
+/+ - c.492+1G>A r.spl? p.?
+?/? 7 c.498C>A r.(?) p.(Cys166*)
+?/? 7i c.529-1G>A r.spl? p.?
+/+ 8 c.594T>G r.(?) p.(Tyr198*)
+/+ 8 c.602dup r.(?) p.Asn201Lysfs*13
+?/+? 8i c.619+1G>A r.spl? p.?
+?/. 9 c.620G>A r.(?) p.(Gly207Glu)
+?/+? 9 c.623A>G r.(?) p.(His208Arg)
+?/+? 9 c.670G>A r.(?) p.(Gly224Arg)
+/+ 9 c.698del r.(?) p.(Glu233Glyfs*3)
+?/? 9i c.702+1del r.spl? p.?
+?/+? - c.702+5G>A r.(spl?) p.?
+?/+? - c.702+5G>A r.(spl?) p.?
+?/? 9i c.702+5G>C r.spl? p.?
+?/? 10 c.745G>T r.(?) p.(Glu249*)
?/. - c.758T>A r.(?) p.(Val253Asp)
-/. - c.762T>C r.(?) p.(Thr254=)
-/. - c.762T>C r.(?) p.(Thr254=)
-/. - c.762T>C r.(?) p.(Thr254=)
+/+? 10 c.784C>T r.(?) p.Arg262Trp
+/+ 10 c.784C>T r.(?) p.(Arg262Trp)
+/. - c.784C>T r.(?) p.(Arg262Trp)
+/+ 10 c.784C>T r.(?) p.Arg262Trp
+/. - c.784C>T r.(?) p.(Arg262Trp)
+/+ 10 c.[784_787delCGGC;791_802dupTCCTGGAGCTGA] r.(?) p.(Arg262*)
+/. - c.793del r.(?) p.(Leu265TrpfsTer3)
+/. 10 c.857A>G r.spl p.(Asn286Ser)
+?/. - c.869+1G>A r.spl? p.?
+?/. 11 c.876T>G r.(?) p.(Tyr292*)
+/+ 11 c.933dup r.(?) p.Ser312Leufs*22
-/. - c.984C>T r.(?) p.(Ala328=)
+?/+? i11 c.994+1G>C r.spl? p.?
+?/+? i11 c.994+1G>C r.spl? p.?
+?/+? 11i c.994+1G>C r.spl? p.?
+?/? 11i c.994+5G>A r.(spl?) p.?
+/. 11i_28_ c.994+5_*918117del r.? p.?
-/. - c.994+6C>T r.(=) p.(=)
-/. - c.994+6C>T r.(=) p.(=)
-?/. - c.994+7G>A r.(=) p.(=)
+/+ 12 c.1052del r.(?) p.Pro351Leufs*35
+?/. - c.1058C>T r.(?) p.(Thr353Met)
-?/. - c.1058+3_1058+7del r.spl? p.?
+?/-? 12i c.1058+3_1058+7del r.(spl?) p.?
-?/. - c.1058+3_1058+7del r.spl? p.?
-/. - c.1058+3_1058+7del r.spl? p.?
+/+? Intron 12 c.1058+5G>A r.spl? p.?
+?/. - c.1060C>T r.(?) p.(Arg354Ter)
+/. - c.1060C>T r.(?) p.(Arg354Ter)
+/. 13 c.1149G>C r.(?) p.(Gln383His)
+?/? 13i c.1149+5G>T r.spl? p.?
-?/. - c.1150G>A r.(?) p.(Val384Ile)
+/+ 14 c.1172_1179del r.(?) p.(Ser391Thrfs*57)
+/. - c.1297_1298del r.(?) p.(Met433ValfsTer17)
+/+ 15 c.1297_1298del r.(?) p.Met433Valfs*17
+/+ 15 c.1297_1298del r.(?) p.Met433Valfs*17
?/. - c.1399G>T r.(?) p.(Asp467Tyr)
?/. - c.1420del r.(?) p.(Leu474Ter)
+/+ 16 c.1426T>C r.(?) p.(Cys476Arg)
+/+ 16 c.1435dup r.(?) p.Thr479Asnfs*2
+?/? 16 c.1435dup r.(?) p.(Thr479Asnfs*2)
+?/+? 16 c.1496G>A r.(?) p.Gly499Asp
-?/. - c.1505A>G r.(?) p.(His502Arg)
+/. - c.1546del r.(?) p.(Leu516TrpfsTer26)
?/. - c.1607+2T>A r.spl? p.?
+?/. - c.1607+3A>G r.spl? p.?
+/+ i16 c.1607+3A>G r.spl? p.?
?/. - c.1634C>T r.(?) p.(Pro545Leu)
+/+ 17 c.1705C>T r.(?) p.Arg569*
+/+ 17 c.1705C>T r.(?) p.(Arg569*)
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