Transcript #00001779 (NM_001199107.1, TBC1D24 gene)

Transcript name transcript variant 1
Gene name TBC1D24 (TBC1 domain family, member 24)
Chromosome 16
Transcript - NCBI ID NM_001199107.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001186036.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

217 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-3491G>A r.(?) p.(=)
?/. - c.-3440_-3387del r.(?) p.(=)
?/. - c.-2849_-2830del r.(?) p.(=)
?/. - c.-2825_-2818del r.(?) p.(=)
?/. - c.-2814_-2805del r.(?) p.(=)
?/. - c.-2801_-2772del r.(?) p.(=)
?/. - c.-1500_-1489del r.(?) p.(=)
-?/. - c.-78G>A r.(?) p.(=)
-?/. - c.-7C>T r.(?) p.(=)
-?/. - c.-7C>T r.(?) p.(=)
-?/. - c.22T>C r.(?) p.(Cys8Arg)
?/? 2 c.58C>T r.(?) p.(Gln20*)
?/? 2 c.58C>T r.(?) p.(Gln20*)
?/. - c.74A>G r.(?) p.(Lys25Arg)
+?/. - c.116C>T r.(?) p.(Ala39Val)
+?/. - c.116C>T r.(?) p.(Ala39Val)
+?/. - c.116C>T r.(?) p.(Ala39Val)
+?/. - c.116C>T r.(?) p.(Ala39Val)
+?/. - c.116C>T r.(?) p.(Ala39Val)
+?/. - c.116C>T r.(?) p.(Ala39Val)
+?/. - c.116C>T r.(?) p.(Ala39Val)
?/. - c.118C>T r.(?) p.(Arg40Cys)
?/? 2 c.118C>T r.(?) p.(Arg40Cys)
+/. - c.119G>A r.(?) p.(Arg40His)
+?/. - c.119G>A r.(?) p.(Arg40His)
+?/. - c.119G>A r.(?) p.(Arg40His)
?/? 2 c.119G>T r.(?) p.(Arg40Leu)
+?/. - c.139A>G r.(?) p.(Ser47Gly)
+?/. - c.151C>T r.(?) p.(Arg51Trp)
./. - c.169C>T r.(?) p.(Arg57Cys)
./. - c.169C>T r.(?) p.(Arg57Cys)
?/. - c.169C>T r.(?) p.(Arg57Cys)
-?/. - c.169C>T r.(?) p.(Arg57Cys)
-?/. - c.169C>T r.(?) p.(Arg57Cys)
./. - c.169C>T r.(?) p.(Arg57Cys)
-?/. - c.169C>T r.(?) p.(Arg57Cys)
./. - c.178C>T r.(?) p.(Arg60Trp)
?/. - c.178C>T r.(?) p.(Arg60Trp)
?/. - c.178C>T r.(?) p.(Arg60Trp)
-?/. - c.179G>A r.(?) p.(Arg60Gln)
-?/. - c.192C>T r.(?) p.(Cys64=)
+?/. - c.193C>T r.(?) p.(Arg65Cys)
+?/. 2 c.194G>T r.(?) p.(Arg65Leu)
+/. 2 c.194G>T r.(?) p.(Arg65Leu)
?/. - c.197C>T r.(?) p.(Thr66Met)
-?/. - c.204G>A r.(?) p.(Thr68=)
-?/. - c.204G>A r.(?) p.(Thr68=)
-?/. - c.204G>A r.(?) p.(Thr68=)
-?/. - c.207T>C r.(?) p.(Pro69=)
?/? 2 c.208G>T r.(?) p.(Asp70Tyr)
-?/. - c.225C>T r.(?) p.(Ser75=)
?/. - c.232G>A r.(?) p.(Val78Met)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
+?/. - c.241_252del r.(?) p.(Ile81_Lys84del)
?/. - c.294C>A r.(?) p.(Asn98Lys)
./. - c.313T>C r.(?) p.(Cys105Arg)
?/. - c.317T>C r.(?) p.(Leu106Pro)
./. - c.325C>T r.(?) p.(Arg109Cys)
?/. - c.325C>T r.(?) p.(Arg109Cys)
?/? 2 c.328G>A r.(?) p.(Gly110Ser)
./. - c.344G>T r.(?) p.(Arg115Leu)
-?/. - c.384C>T r.(?) p.(Ile128=)
+?/. - c.404C>T r.(?) p.(Pro135Leu)
+?/. - c.404C>T r.(?) p.(Pro135Leu)
?/. - c.409G>A r.(?) p.(Val137Met)
?/. - c.418C>G r.(?) p.(Leu140Val)
+?/. - c.431A>G r.(?) p.(Tyr144Cys)
-?/. - c.438C>T r.(?) p.(Ile146=)
?/? 2 c.439G>C r.(?) p.(Asp147His)
-?/. - c.441C>T r.(?) p.(Asp147=)
+?/. - c.442G>A r.(?) p.(Glu148Lys)
-?/. - c.447C>T r.(?) p.(Ala149=)
?/. - c.457G>A r.(?) p.(Glu153Lys)
+?/. - c.457G>A r.(?) p.(Glu153Lys)
+?/. - c.457G>A r.(?) p.(Glu153Lys)
+?/. - c.457G>T r.(?) p.(Glu153*)
+?/? 2 c.468C>A r.(?) p.(Cys156*)
?/. - c.493G>A r.(?) p.(Gly165Ser)
+?/? 2 c.533C>T r.(?) p.(Ser178Leu)
+?/? 2 c.533C>T r.(?) p.(Ser178Leu)
+?/. 2 c.533C>T r.(?) p.(Ser178Leu)
-?/. - c.546G>A r.(?) p.(Thr182=)
+?/. 2 c.553G>A r.(?) p.(Asp185Asn)
?/. - c.601G>A r.(?) p.(Val201Met)
?/. - c.605C>T r.(?) p.(Ser202Leu)
+?/. - c.619C>T r.(?) p.(Gln207*)
+?/. - c.619C>T r.(?) p.(Gln207*)
?/. - c.622_639del r.(?) p.(Val208_Gln213del)
./. - c.641G>A r.(?) p.(Arg214His)
./. - c.641G>A r.(?) p.(Arg214His)
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