Transcript #00003342

Transcript name transcript variant 1
Gene name DGUOK (deoxyguanosine kinase)
Chromosome 2
Transcript - NCBI ID NM_080916.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_550438.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
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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) - - - -
?/? - 3/5 c.287T>C p.(Leu96Pro) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.287T>C p.(Leu96Pro) - - - -
./. - - c.313C>T p.(Arg105*) - - - -
+/+ - 3/5 c.313C>T p.(Arg105*) - stop_gained - -
./. - - 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.444-11C>G p.(=) - - - -
./. - - c.462T>A p.(Asn154Lys) - - - -
./. - - c.509A>G p.(Gln170Arg) - - - -
./. - - c.568A>T p.(Ile190Phe) - - - -
./. - - c.592-9del p.(=) - - - -
./. - - c.602_603del p.(Arg202Thrfs*13) - - - -
./. - - c.608_609del p.(Tyr204Profs*11) - - - -
./. - - c.630G>A p.(=) - - - -
./. - - c.664C>T p.(=) - - - -
./. - - c.679G>A p.(Glu227Lys) - - - -
+/+ - 5/7 c.679G>A p.(Glu227Lys) probably_damaging(0.994) missense_variant - deleterious(0)
./. - - c.705G>A p.(=) - - - -
./. - - c.705_706insAAGT p.? - - - -
./. - - c.708-3T>C p.? - - - -
./. - - c.749T>C p.(Leu250Ser) - - - -
./. - - c.761_762insTGAT p.(Phe256*) - - - -
+/+ - 6/7 c.763G>T p.(Asp255Tyr) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.763G>T p.(Asp255Tyr) - - - -
./. - - c.*13A>T p.(=) - - - -
./. - - c.*120G>A p.(=) - - - -
./. - - c.*202_*203insTTAAG p.(=) - - - -
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