Unique variants in the PRX gene

Information The variants shown are described using the NM_181882.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 6 c.247delC r.(?) p.(Leu83Cysfs*14) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.40904661delG 1 more item PRX_000007 - Y Yang
./. 1 7 c.586C>T r.(?) p.(Arg196*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.40903673G>A 1 more item PRX_000005 - Y Yang
./. 1 7 c.1102C>T r.(?) p.(Arg368*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.40903157G>A Boerkoel CF1, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR.(2001) PRX_000003 - Y Yang
./. 1 7 c.1194_1197delTTCC r.(?) p.(Leu400Trpfs*11) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.40903062_40903065delGGAA 1 more item PRX_000009 - Y Yang
./. 1 7 c.2145T>A r.(?) p.(Cys715*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation g.40902114A>T 1 more item PRX_000006 - Y Yang
./. 1 7 c.2289delT r.(?) p.(Asp765Thrfs*10) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.40901970delA Boerkoel CF1, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR.(2001) PRX_000004 - Y Yang
./. 1 7 c.2787delC r.(?) p.(Lys930Serfs*28) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.40901472delG Boerkoel CF1, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR.(2001) PRX_000002 - Y Yang
./. 1 7 c.2857C>T r.(?) p.(Arg953*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.40901402G>A Boerkoel CF1, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR.(2001) PRX_000001 - Y Yang
./. 1 7 c.3208C>T r.(?) p.(Arg1070*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation g.40901051G>A Kijima K1, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S, Tanaka T, Hayasaka K.(2004) PRX_000008 - Y Yang
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