Transcript #00000106 (NM_002529.3, NTRK1 gene)

Transcript name neurotrophic tyrosine kinase, receptor, type 1, transcript variant 3
Gene name NTRK1 (neurotrophic tyrosine kinase, receptor, type 1)
Chromosome 1
Transcript - NCBI ID NM_002529.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001007793.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

391 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. 15 c.? r.? p.?
+/. 13 c.? r.? p.?
?/. 16 c.? r.? p.?
-?/. - c.-45114A>G r.(?) p.(=)
-/. - c.-45110G>A r.(?) p.(=)
-/. - c.-45110G>A r.(?) p.(=)
-?/. - c.-45081G>T r.(?) p.(=)
?/. - c.-18767C>T r.(?) p.(=)
-?/. - c.-14392C>T r.(?) p.(=)
?/. - c.-9582G>A r.(?) p.(=)
-?/. - c.-8972C>T r.(?) p.(=)
-?/. - c.-8895C>T r.(?) p.(=)
?/. _1 c.-78A>G r.(=) p.(=)
-/. - c.1501+35GT[15] r.(=) p.(=)
-/. - c.1501+35GT[16] r.(=) p.(=)
-/. - c.1501+35GT[17] r.(=) p.(=)
-/. - c.1501+35GT[18] r.(=) p.(=)
-/. - c.1501+35GT[19] r.(=) p.(=)
-/. - c.1501+35GT[20] r.(=) p.(=)
-?/. - c.16C>T r.(?) p.(Arg6Trp)
-?/. - c.16C>T r.(?) p.(Arg6Trp)
+/. - c.25C>T r.(?) p.(Gln9Ter)
+/. - c.25C>T r.(?) p.(Gln9*)
-?/. - c.53G>A r.(?) p.(Gly18Glu)
-/. - c.53G>A r.(?) p.(Gly18Glu)
-/. 1 c.53G>A r.(?) p.(Gly18Glu)
-/. - c.53G>A r.(?) p.(Gly18Glu)
-/. - c.53G>A r.(?) p.(Gly18Glu)
-?/. - c.117C>T r.(?) p.(Ala39=)
-/. - c.117C>T r.(?) p.(Ala39=)
?/. - c.185T>C r.(?) p.(Leu62Pro)
+/. - c.200del r.(?) p.(Asn67Thrfs*2)
+/. - c.207_208del r.(?) p.(Glu70Alafs*16)
+/. - c.207_208del r.(?) p.(Glu70Alafs*16)
-?/. - c.212+10C>T r.(=) p.(=)
-?/. - c.212+10C>T r.(=) p.(=)
?/. 1i c.212+59A>C r.(=) p.(=)
-?/. - c.219C>T r.(?) p.(Ile73=)
?/. - c.236T>A r.(?) p.(Leu79Gln)
?/. - c.239A>G r.(?) p.(Gln80Arg)
?/. - c.239A>G r.(?) p.(Gln80Arg)
?/. - c.253C>A r.(?) p.(Arg85Ser)
?/. - c.253C>A r.(?) p.(Arg85Ser)
?/. - c.254G>A r.(?) p.(Arg85His)
?/. - c.265G>A r.(?) p.(Gly89Ser)
?/. - c.271G>C r.(?) p.(Gly91Arg)
+/. 2 c.274dup r.(?) p.(Glu92Glyfs*81)
+/. - c.278T>C r.(?) p.(Leu93Pro)
+/. - c.278T>C r.(?) p.(Leu93Pro)
-?/. - c.279G>A r.(?) p.(Leu93=)
+/. - c.287+2dup r.spl? p.?
+/. - c.287+2dup r.spl p.?
+/. - c.287+7G>T r.spl p.(=)
+?/. - c.287+7G>T r.(?) p.(=)
-/. - c.287+49G>T r.(=) p.(=)
-/. - c.287+49G>T r.(?) p.(=)
-/. - c.287+49G>T r.(=) p.(=)
-/. 2i c.287+49G>T r.(=) p.(=)
-/. - c.287+84G>A r.(=) p.(=)
-/. - c.287+144G>A r.(=) p.(=)
-/. - c.288-8C>T r.(=) p.(=)
?/. - c.295G>A r.(?) p.(Val99Met)
-?/. - c.315C>T r.(?) p.(Phe105=)
-?/. - c.321G>C r.(?) p.(Ala107=)
-?/. - c.321G>T r.(?) p.(Ala107=)
?/. - c.326A>G r.(?) p.(Asp109Gly)
+?/. - c.329C>A r.(?) p.(Ala110Asp)
+/. - c.354_359+3del r.spl p.?
+/. - c.354_359+3del r.spl p.?
+?/. - c.359+5G>T r.spl? p.?
+/. - c.359+5G>T r.[288_359del,213_359del] p.[Thr97_Leu120del,Tyr72_Leu120del]
+/. - c.359+5G>T r.spl? p.?
?/. - c.360-4G>A r.spl? p.?
+/. - c.391_392del r.(?) p.(Ser131Leufs*41)
+/. - c.391_392del r.(?) p.(Ser131Leufs*41)
+/. 4 c.404_405del r.(?) p.(Val135AlafsTer37)
-/. - c.428+12C>A r.(=) p.(=)
-/. 4i c.428+12C>A r.(=) p.(=)
-/. 4i c.428+47C>T r.(=) p.(=)
-/. 4i c.428+68T>C r.(=) p.(=)
-/. 4i c.428+197A>G r.(=) p.(=)
-/. 4i c.429-49T>C r.(=) p.(=)
?/. - c.429-1G>C r.spl? p.?
+/. 4i c.429-1G>C r.spl p.?
?/. - c.437C>T r.(?) p.(Ser146Leu)
?/. - c.437C>T r.(?) p.(Ser146Leu)
?/. - c.446C>A r.(?) p.(Pro149His)
?/. - c.469C>T r.(?) p.(Arg157Cys)
?/. - c.470G>A r.(?) p.(Arg157His)
?/. - c.470G>A r.(?) p.(Arg157His)
-/. - c.482G>A r.(?) p.(Arg161His)
?/. - c.482G>A r.(?) p.(Arg161His)
+/. - c.485G>A r.(?) p.(Trp162Ter)
+/. - c.490G>T r.(?) p.(Glu164Ter)
+/. - c.490G>T r.(?) p.(Glu164*)
+/. - c.496G>T r.(?) p.(Gly166Ter)
+/. - c.496G>T r.(?) p.(Gly166*)
-/. - c.505G>A r.(?) p.(Gly169Arg)
+/. - c.526C>T r.(?) p.(Gln176*)
+/. - c.526C>T r.(?) p.(Gln176*)
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