Transcript #00000284

Transcript name transcript variant 3
Gene name RRM2B (ribonucleotide reductase M2 B (TP53 inducible))
Chromosome 8
Transcript - NCBI ID NM_001172478.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001165949.1
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.-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 - -
?/? - - c.49-6222C>T p.(=) - - - -
./. - - c.49-6222C>T p.(=) - - - -
./. - - c.49-6198C>T p.(=) - - - -
./. - - c.49-6197G>A p.(=) - - - -
./. - - c.49-6197G>A p.(=) - - - -
./. - - c.49-6197G>C p.(=) - - - -
./. - - c.49-6197G>C p.(=) - - - -
./. - - c.49-6129T>C p.(=) - - - -
./. - - c.51C>T p.(=) - - - -
./. - - c.52G>A p.(Asp18Asn) - - - -
./. - - c.97_99del p.(Glu33del) - - - -
./. - - c.166-2A>C p.? - - - -
./. - - c.166-2A>G p.? - splice_acceptor_variant - -
./. - - c.166-2A>G p.? - - - -
./. - - c.172C>T p.(Arg58Cys) - - - -
+/+ - 3/8 c.173G>A p.(Arg58His) probably_damaging(0.974) missense_variant - tolerated(0.06)
./. - - c.173G>A p.(Arg58His) - - - -
?/? - 3/8 c.181C>T p.(Gln61*) - stop_gained - -
./. - - c.206G>A p.(Arg69His) - - - -
+/+ - 3/8 c.206G>A p.(Arg69His) possibly_damaging(0.616) missense_variant - deleterious(0.01)
./. - - c.212T>C p.(Phe71Ser) - - - -
./. - - c.235G>A p.(Glu79Lys) - - - -
./. - - c.275C>T p.(Thr92Ile) - - - -
./. - - c.347A>G p.(Lys116Arg) - - - -
./. - - c.384A>G p.(=) - - - -
./. - - c.400A>G p.(Arg134Gly) - - - -
+/+ - 5/8 c.424G>A p.(Glu142Lys) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.424G>A p.(Glu142Lys) - - - -
./. - - c.425A>G p.(Glu142Gly) - - - -
./. - - c.427G>A p.(Gly143Arg) - - - -
./. - - c.428del p.(Gly143Glufs*14) - - - -
./. - - c.450T>A p.(Phe150Leu) - - - -
?/? - 5/8 c.451G>A p.(Ala151Thr) probably_damaging(0.991) missense_variant - deleterious(0.01)
./. - - c.476G>A p.(Arg159Lys) - - - -
./. - - c.479_480insAAG p.(Gly160_Leu161insSer) - - - -
./. - - c.506A>G p.(Asn169Ser) - - - -
./. - - c.515T>G p.(Ile172Ser) - - - -
+/+ - 6/8 c.530G>T p.(Gly177Val) probably_damaging(0.999) missense_variant,splice_region_variant - deleterious(0)
./. - - c.530G>T p.(Gly177Val) - - - -
./. - - c.551G>T p.(Cys184Phe) - - - -
+/+ - 6/8 c.551G>T p.(Cys184Phe) probably_damaging(0.995) missense_variant - deleterious(0)
./. - - c.600G>A p.(=) - - - -
./. - - c.634-9T>C p.(=) - - - -
./. - - c.634-8C>A p.(=) - - - -
./. - - c.661G>A p.(Gly221Ser) - - - -
?/? - 7/8 c.661G>A p.(Gly221Ser) benign(0.01) missense_variant - tolerated(1)
+?/+? - 7/8 c.690G>C p.(Met230Ile) probably_damaging(0.913) missense_variant - tolerated(0.08)
./. - - c.690G>C p.(Met230Ile) - - - -
+/+ - 7/8 c.694C>T p.(Gln232*) - stop_gained - -
./. - - c.694C>T p.(Gln232*) - - - -
./. - - c.757G>T p.(Ala253Ser) - - - -
./. - - c.764del p.(Asn255Ilefs*11) - - - -
./. - - c.793T>G p.(Leu265Val) - - - -
./. - - c.794del p.(Leu265*) - - - -
./. - - c.796G>T p.(Glu266*) - - - -
./. - - c.809_810insA p.(Asn270Lysfs*4) - - - -
+/+ - 8/8 c.823C>T p.(Arg275*) - stop_gained - -
./. - - c.823C>T p.(Arg275*) - - - -
./. - - c.890C>G p.(Ala297Gly) - - - -
./. - - 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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