Transcript #00000236

Transcript name Werner syndrome, RecQ helicase-like
Gene name WRN (WRN RecQ like helicase)
Chromosome 8
Transcript - NCBI ID NM_000553.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000544.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

389 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.25A>G r.(?) p.(Thr9Ala)
./. - c.25A>G r.(?) p.(Thr9Ala)
./. - c.25A>G r.(?) p.(Thr9Ala)
./. - c.25A>G r.(?) p.(Thr9Ala)
./. - c.25A>G r.(?) p.(Thr9Ala)
./. - c.25A>G r.(?) p.(Thr9Ala)
./. - c.25A>G r.(?) p.(Thr9Ala)
./. - c.25A>G r.(?) p.(Thr9Ala)
./. - c.25A>G r.(?) p.(Thr9Ala)
./. - c.59A>G r.(?) p.(Asn20Ser)
./. - c.75A>G r.(=) p.(=)
./. - c.75A>G r.(=) p.(=)
./. - c.75A>G r.(=) p.(=)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.95A>G r.(?) p.(Lys32Arg)
./. - c.96+40A>T r.(=) p.(=)
./. - c.115G>A r.(?) p.(Val39Ile)
./. - c.171C>A r.(?) p.(Tyr57*)
./. - c.209+5G>C r.spl? p.?
./. - c.248T>C r.(?) p.(Met83Thr)
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.355+4G>C r.spl? p.?
./. - c.437A>G r.(?) p.(Lys146Arg)
./. - c.452T>A r.(?) p.(Phe151Tyr)
./. - c.504+49A>G r.(=) p.(=)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.514A>C r.(?) p.(Thr172Pro)
./. - c.567C>T r.(=) p.(=)
./. - c.587G>A r.(?) p.(Arg196His)
./. - c.654+4C>T r.spl? p.?
./. - c.655-6T>C r.(=) p.(=)
./. - c.655-6T>C r.(=) p.(=)
./. - c.655-6T>C r.(=) p.(=)
./. - c.698C>T r.(?) p.(Thr233Ile)
./. - c.724+24A>C r.(=) p.(=)
./. - c.724+24A>C r.(=) p.(=)
./. - c.724+24A>C r.(=) p.(=)
./. - c.724+24A>C r.(=) p.(=)
./. - c.724+24A>C r.(=) p.(=)
./. - c.724+24A>C r.(=) p.(=)
./. - c.724+24A>C r.(=) p.(=)
./. - c.724+24A>C r.(=) p.(=)
./. - c.725-25T>A r.(=) p.(=)
./. - c.725-16del r.(=) p.(=)
./. - c.835C>T r.(?) p.(Arg279Trp)
./. - c.840-22_840-19del r.(=) p.(=)
./. - c.840-22_840-19del r.(=) p.(=)
./. - c.840-15T>A r.(=) p.(=)
./. - c.876A>G r.(=) p.(=)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
./. - c.970A>G r.(?) p.(Thr324Ala)
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