Transcript #00000285

Transcript name transcript variant 1
Gene name RRM2B (ribonucleotide reductase M2 B (TP53 inducible))
Chromosome 8
Transcript - NCBI ID NM_015713.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_056528.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

122 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-157G>A p.(=) - - - -
./. - - c.-153G>T p.(=) - - - -
./. - - c.-103G>A p.(=) - - - -
./. - - c.-88C>A p.(=) - - - -
./. - - c.48G>A p.(=) - - - -
?/? - 1/8 c.48G>A p.(=) - splice_region_variant,synonymous_variant - -
?/? - 2/4 c.97C>T p.(Pro33Ser) probably_damaging(0.932) missense_variant,NMD_transcript_variant - -
./. - - c.97C>T p.(Pro33Ser) - - - -
./. - - c.121C>T p.(Arg41Trp) - - - -
./. - - c.122G>A p.(Arg41Gln) - - - -
./. - 2/4 c.122G>A p.(Arg41Gln) possibly_damaging(0.776) missense_variant,splice_region_variant,NMD_transcript_variant - -
./. - 2/4 c.122G>C p.(Arg41Pro) probably_damaging(0.933) missense_variant,splice_region_variant,NMD_transcript_variant - -
./. - - c.122G>C p.(Arg41Pro) - - - -
./. - - c.190T>C p.(Trp64Arg) - - - -
./. - - c.207C>T p.(=) - - - -
./. - - c.208G>A p.(Asp70Asn) - - - -
./. - - c.253_255del p.(Glu85del) - - - -
./. - - c.322-2A>C p.? - - - -
./. - - c.322-2A>G p.? - - - -
./. - - c.322-2A>G p.? - splice_acceptor_variant - -
./. - - c.328C>T p.(Arg110Cys) - - - -
./. - - c.329G>A p.(Arg110His) - - - -
+/+ - 4/9 c.329G>A p.(Arg110His) benign(0.304) missense_variant - tolerated(0.07)
?/? - 4/9 c.337C>T p.(Gln113*) - stop_gained - -
+/+ - 4/9 c.362G>A p.(Arg121His) possibly_damaging(0.466) missense_variant - deleterious(0.01)
./. - - c.362G>A p.(Arg121His) - - - -
./. - - c.368T>C p.(Phe123Ser) - - - -
./. - - c.391G>A p.(Glu131Lys) - - - -
./. - - c.431C>T p.(Thr144Ile) - - - -
./. - - c.503A>G p.(Lys168Arg) - - - -
./. - - c.540A>G p.(=) - - - -
./. - - c.556A>G p.(Arg186Gly) - - - -
+/+ - 6/9 c.580G>A p.(Glu194Lys) probably_damaging(0.991) missense_variant - deleterious(0)
./. - - c.580G>A p.(Glu194Lys) - - - -
./. - - c.581A>G p.(Glu194Gly) - - - -
./. - - c.583G>A p.(Gly195Arg) - - - -
./. - - c.584del p.(Gly195Glufs*14) - - - -
./. - - c.606T>A p.(Phe202Leu) - - - -
?/? - 6/9 c.607G>A p.(Ala203Thr) probably_damaging(0.993) missense_variant - deleterious(0)
./. - - c.632G>A p.(Arg211Lys) - - - -
./. - - c.635_636insAAG p.(Gly212_Leu213insSer) - - - -
./. - - c.662A>G p.(Asn221Ser) - - - -
./. - - c.671T>G p.(Ile224Ser) - - - -
+/+ - 7/9 c.686G>T p.(Gly229Val) probably_damaging(0.998) missense_variant,splice_region_variant - deleterious(0)
./. - - c.686G>T p.(Gly229Val) - - - -
+/+ - 7/9 c.707G>T p.(Cys236Phe) probably_damaging(0.989) missense_variant - deleterious(0)
./. - - c.707G>T p.(Cys236Phe) - - - -
./. - - c.756G>A p.(=) - - - -
./. - - c.790-9T>C p.(=) - - - -
./. - - c.790-8C>A p.(=) - - - -
?/? - 8/9 c.817G>A p.(Gly273Ser) benign(0.005) missense_variant - tolerated(1)
./. - - c.817G>A p.(Gly273Ser) - - - -
./. - - c.846G>C p.(Met282Ile) - - - -
+?/+? - 8/9 c.846G>C p.(Met282Ile) possibly_damaging(0.901) missense_variant - tolerated(0.08)
+/+ - 8/9 c.850C>T p.(Gln284*) - stop_gained - -
./. - - c.850C>T p.(Gln284*) - - - -
./. - - c.913G>T p.(Ala305Ser) - - - -
./. - - c.920del p.(Asn307Ilefs*11) - - - -
./. - - c.949T>G p.(Leu317Val) - - - -
./. - - c.950del p.(Leu317*) - - - -
./. - - c.952G>T p.(Glu318*) - - - -
./. - - c.965_966insA p.(Asn322Lysfs*4) - - - -
./. - - c.979C>T p.(Arg327*) - - - -
+/+ - 9/9 c.979C>T p.(Arg327*) - stop_gained - -
./. - - c.1046C>G p.(Ala349Gly) - - - -
./. - - c.*11G>A p.(=) - - - -
./. - - c.*73A>T p.(=) - - - -
./. - - c.*74del p.(=) - - - -
?/? - - c.*80del p.(=) - - - -
?/? - - c.*110del p.(=) - - - -
./. - - c.*125_*126insAA p.(=) - - - -
?/? - - c.*126dup p.(=) - - - -
?/? - - c.*206C>G p.(=) - - - -
./. - - c.*247G>A p.(=) - - - -
./. - - c.*328G>A p.(=) - - - -
./. - - c.*552G>A p.(=) - - - -
./. - - c.*732A>G p.(=) - - - -
./. - - c.*788T>C p.(=) - - - -
./. - - c.*817G>A p.(=) - - - -
./. - - c.*855C>G p.(=) - - - -
./. - - c.*866T>G p.(=) - - - -
./. - - c.*869G>T p.(=) - - - -
./. - - c.*998A>G p.(=) - - - -
./. - - c.*1121T>C p.(=) - - - -
./. - - c.*1277A>T p.(=) - - - -
./. - - c.*1351T>C p.(=) - - - -
./. - - c.*1488G>C p.(=) - - - -
./. - - c.*1596T>C p.(=) - - - -
./. - - c.*1601A>G p.(=) - - - -
./. - - c.*1673T>G p.(=) - - - -
./. - - c.*1717T>A p.(=) - - - -
./. - - c.*1894_*1895insT p.(=) - - - -
./. - - c.*1953A>G p.(=) - - - -
./. - - c.*2035A>G p.(=) - - - -
./. - - c.*2097T>A p.(=) - - - -
./. - - c.*2136G>A p.(=) - - - -
./. - - c.*2151_*2152insA p.(=) - - - -
./. - - c.*2236A>T p.(=) - - - -
./. - - c.*2328A>T p.(=) - - - -
./. - - c.*2410C>A p.(=) - - - -
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