Transcript #00000093

Transcript name transcript variant 2
Gene name DGUOK (deoxyguanosine kinase)
Chromosome 2
Transcript - NCBI ID NM_080918.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_550440.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-62_-61insAGCG p.(=) - - - -
./. - - c.-54C>A p.(=) - - - -
./. - - c.-48G>A p.(=) - - - -
./. - - c.-21G>T p.(=) - - - -
./. - - c.-8T>C p.(=) - - - -
./. - - c.-1G>A p.(=) - - - -
./. - - c.123C>G p.(=) - - - -
./. - - c.130G>A p.(Glu44Lys) - - - -
./. - - c.137A>G p.(Asn46Ser) - - - -
./. - - c.142+1G>T p.? - - - -
./. - - c.155C>T p.(Ser52Phe) - - - -
./. - - c.159G>A p.(=) - - - -
./. - - c.186C>A p.(Tyr62*) - - - -
./. - - c.251del p.(Ala86Profs*13) - - - -
./. - - c.287T>C p.(Leu96Pro) - - - -
?/? - 3/5 c.287T>C p.(Leu96Pro) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 3/5 c.313C>T p.(Arg105*) - stop_gained - -
./. - - c.313C>T p.(Arg105*) - - - -
./. - - c.337T>C p.(Phe113Leu) - - - -
./. - - c.353G>A p.(Arg118His) - - - -
./. - - c.366G>C p.(Gln122His) - - - -
./. - - c.423G>A p.(=) - - - -
+/+ - 3/5 c.425G>A p.(Arg142Lys) probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.425G>A p.(Arg142Lys) - - - -
./. - - c.443+1G>A p.? - - - -
./. - - c.443+3668C>G p.(=) - - - -
./. - - c.443+3697T>A p.(=) - - - -
./. - - c.443+3744A>G p.(=) - - - -
./. - - c.443+3803A>T p.(=) - - - -
./. - - c.444-1030del p.(=) - - - -
./. - - c.444-1011_444-1010del p.(=) - - - -
./. - - c.444-1005_444-1004del p.(=) - - - -
./. - - c.444-983G>A p.(=) - - - -
./. - - c.444-949C>T p.(=) - - - -
+/+ - - c.444-934G>A p.(=) - - - -
./. - - c.444-934G>A p.(=) - - - -
./. - - c.444-908G>A p.(=) - - - -
./. - - c.444-908_444-907insAAGT p.(=) - - - -
./. - - c.444-3T>C p.? - - - -
./. - - c.485T>C p.(Leu162Ser) - - - -
./. - - c.497_498insTGAT p.(Phe168*) - - - -
./. - - c.499G>T p.(Asp167Tyr) - - - -
+/+ - 4/5 c.499G>T p.(Asp167Tyr) probably_damaging(0.997) missense_variant - deleterious(0.04)
./. - - c.*13A>T p.(=) - - - -
./. - - c.*120G>A p.(=) - - - -
./. - - c.*202_*203insTTAAG p.(=) - - - -
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