Transcript #00000286

Transcript name transcript variant 2
Gene name RRM2B (ribonucleotide reductase M2 B (TP53 inducible))
Chromosome 8
Transcript - NCBI ID NM_001172477.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001165948.1
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.-209G>A p.(=) - - - -
./. - - c.-205G>T p.(=) - - - -
./. - - c.-155G>A p.(=) - - - -
./. - - c.-140C>A p.(=) - - - -
?/? - - c.-5G>A p.(=) - - - -
./. - - c.-5G>A p.(=) - - - -
./. - - c.313C>T p.(Pro105Ser) - - - -
?/? - 2/9 c.313C>T p.(Pro105Ser) - missense_variant - -
./. - - c.337C>T p.(Arg113Trp) - - - -
./. - - c.338G>A p.(Arg113Gln) - - - -
./. - 2/9 c.338G>A p.(Arg113Gln) - missense_variant - -
./. - - c.338G>C p.(Arg113Pro) - - - -
./. - 2/9 c.338G>C p.(Arg113Pro) - missense_variant - -
./. - - c.406T>C p.(Trp136Arg) - - - -
./. - - c.423C>T p.(=) - - - -
./. - - c.424G>A p.(Asp142Asn) - - - -
./. - - c.469_471del p.(Glu157del) - - - -
./. - - c.538-2A>C p.? - - - -
./. - - c.538-2A>G p.? - - - -
./. - - c.538-2A>G p.? - splice_acceptor_variant - -
./. - - c.544C>T p.(Arg182Cys) - - - -
+/+ - 4/9 c.545G>A p.(Arg182His) - missense_variant - -
./. - - c.545G>A p.(Arg182His) - - - -
?/? - 4/9 c.553C>T p.(Gln185*) - stop_gained - -
+/+ - 4/9 c.578G>A p.(Arg193His) - missense_variant - -
./. - - c.578G>A p.(Arg193His) - - - -
./. - - c.584T>C p.(Phe195Ser) - - - -
./. - - c.607G>A p.(Glu203Lys) - - - -
./. - - c.647C>T p.(Thr216Ile) - - - -
./. - - c.719A>G p.(Lys240Arg) - - - -
./. - - c.756A>G p.(=) - - - -
./. - - c.772A>G p.(Arg258Gly) - - - -
+/+ - 6/9 c.796G>A p.(Glu266Lys) - missense_variant - -
./. - - c.796G>A p.(Glu266Lys) - - - -
./. - - c.797A>G p.(Glu266Gly) - - - -
./. - - c.799G>A p.(Gly267Arg) - - - -
./. - - c.800del p.(Gly267Glufs*14) - - - -
./. - - c.822T>A p.(Phe274Leu) - - - -
?/? - 6/9 c.823G>A p.(Ala275Thr) - missense_variant - -
./. - - c.848G>A p.(Arg283Lys) - - - -
./. - - c.851_852insAAG p.(Gly284_Leu285insSer) - - - -
./. - - c.878A>G p.(Asn293Ser) - - - -
./. - - c.887T>G p.(Ile296Ser) - - - -
./. - - c.902G>T p.(Gly301Val) - - - -
+/+ - 7/9 c.902G>T p.(Gly301Val) - missense_variant,splice_region_variant - -
+/+ - 7/9 c.923G>T p.(Cys308Phe) - missense_variant - -
./. - - c.923G>T p.(Cys308Phe) - - - -
./. - - c.972G>A p.(=) - - - -
./. - - c.1006-9T>C p.(=) - - - -
./. - - c.1006-8C>A p.(=) - - - -
./. - - c.1033G>A p.(Gly345Ser) - - - -
?/? - 8/9 c.1033G>A p.(Gly345Ser) - missense_variant - -
+?/+? - 8/9 c.1062G>C p.(Met354Ile) - missense_variant - -
./. - - c.1062G>C p.(Met354Ile) - - - -
./. - - c.1066C>T p.(Gln356*) - - - -
+/+ - 8/9 c.1066C>T p.(Gln356*) - stop_gained - -
./. - - c.1129G>T p.(Ala377Ser) - - - -
./. - - c.1136del p.(Asn379Ilefs*11) - - - -
./. - - c.1165T>G p.(Leu389Val) - - - -
./. - - c.1166del p.(Leu389*) - - - -
./. - - c.1168G>T p.(Glu390*) - - - -
./. - - c.1181_1182insA p.(Asn394Lysfs*4) - - - -
./. - - c.1195C>T p.(Arg399*) - - - -
+/+ - 9/9 c.1195C>T p.(Arg399*) - stop_gained - -
./. - - c.1262C>G p.(Ala421Gly) - - - -
./. - - 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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