Transcript #00000023

Transcript name acylglycerol kinase
Gene name AGK (acylglycerol kinase)
Chromosome 7
Transcript - NCBI ID NM_018238.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060708.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

62 entries on 1 page. Showing entries 1 - 62.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-162G>A p.(=) - - - -
./. - - c.-139G>A p.(=) - - - -
./. - - c.-100G>A p.(=) - - - -
./. - - c.-88G>C p.(=) - - - -
./. - - c.-75G>C p.(=) - - - -
./. - - c.-36G>A p.(=) - - - -
./. - - c.3G>C p.? - - - -
./. - - c.17A>G p.(Lys6Arg) - - - -
./. - - c.101+5C>T p.? - - - -
./. - - c.141+2T>C p.? - - - -
./. - - c.257C>G p.(Pro86Arg) - - - -
./. - - c.298-2A>G p.? - - - -
./. - - c.306T>G p.(Tyr102*) - - - -
./. - - c.390+1G>A p.? - - - -
./. - - c.409C>T p.(Arg137*) - - - -
./. - - c.416C>G p.(Thr139Arg) - - - -
./. - - c.424-11T>C p.(=) - - - -
./. - - c.424-5C>T p.? - - - -
./. - - c.424-4C>G p.? - - - -
./. - - c.424-3C>G p.? - - - -
./. - - c.517C>T p.(Gln173*) - - - -
+/+ - 8/16 c.517C>T p.(Gln173*) - stop_gained,splice_region_variant - -
./. - - c.637T>C p.(Ser213Pro) - - - -
./. - - c.672C>G p.(Tyr224*) - - - -
./. - - c.743A>C p.(His248Pro) - - - -
./. - - c.763A>G p.(Thr255Ala) - - - -
./. - - c.803C>A p.(Thr268Asn) - - - -
./. - - c.804C>T p.(=) - - - -
./. - - c.841C>T p.(Arg281*) - - - -
+/+ - 12/16 c.841C>T p.(Arg281*) - stop_gained - -
./. - - c.863C>T p.(Ala288Val) - - - -
./. - - c.877+14C>T p.(=) - - - -
./. - - c.963G>A p.(=) - - - -
./. - - c.975+1G>T p.? - - - -
./. - - c.1052G>A p.(Arg351Gln) - - - -
./. - - c.1088C>T p.(Thr363Met) - - - -
./. - - c.1098C>T p.(=) - - - -
./. - - c.1131+5G>A p.? - - - -
./. - - c.1137_1138insGG - - - - -
./. - - c.1170T>G p.(Tyr390*) - - - -
./. - - c.1211_1237del p.(Leu404_Lys412del) - - - -
./. - - c.*81_*82del p.(=) - - - -
./. - - c.*141C>T p.(=) - - - -
./. - - c.*265G>A p.(=) - - - -
./. - - c.*319del p.(=) - - - -
./. - - c.*320G>A p.(=) - - - -
./. - - c.*353_*355del p.(=) - - - -
./. - - c.*365G>A p.(=) - - - -
./. - - c.*461_*462insTGTT p.(=) - - - -
./. - - c.*933C>T p.(=) - - - -
./. - - c.*967T>C p.(=) - - - -
./. - - c.*992G>A p.(=) - - - -
./. - - c.*1024C>T p.(=) - - - -
./. - - c.*1127C>A p.(=) - - - -
./. - - c.*1175C>T p.(=) - - - -
./. - - c.*1210A>T p.(=) - - - -
./. - - c.*1232_*1235del p.(=) - - - -
./. - - c.*1237G>A p.(=) - - - -
./. - - c.*1301C>T p.(=) - - - -
./. - - c.*1305_*1308del p.(=) - - - -
./. - - c.*1319G>A p.(=) - - - -
./. - - c.*1328_*1331del p.(=) - - - -
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