Transcript #00000635 (NM_006240.2, PPEF1 gene)

Transcript name transcript variant 1
Gene name PPEF1 (protein phosphatase, EF-hand calcium binding domain 1)
Chromosome X
Transcript - NCBI ID NM_006240.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006231.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

29 entries on 1 page. Showing entries 1 - 29.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-225-64G>T r.(=) p.(=)
?/. - c.-225-64_-225-51del r.(=) p.(=)
?/. - c.-225-60_-225-51del r.(=) p.(=)
+/. _1_9i c.-481_(558+1_559-1){0} r.0 p.0
?/. - c.236-15dup r.(=) p.(=)
-?/. - c.397-8G>A r.(=) p.(=)
?/. - c.558+27A>G r.(=) p.(=)
?/. - c.558+27A>G r.(=) p.(=)
?/. - c.558+165dup r.(=) p.(=)
?/. - c.558+165dup r.(=) p.(=)
?/. - c.558+165dup r.(=) p.(=)
?/. - c.558+245A>G r.(=) p.(=)
?/. - c.762+11del r.(=) p.(=)
?/. - c.762+11del r.(=) p.(=)
?/. - c.762+11_762+12del r.(=) p.(=)
?/. - c.762+11_762+12del r.(=) p.(=)
?/. - c.763-175_763-174dup r.(=) p.(=)
?/. - c.763-175_763-174dup r.(=) p.(=)
?/. - c.763-175_763-174dup r.(=) p.(=)
?/. - c.763-174dup r.(=) p.(=)
?/. - c.763-174dup r.(=) p.(=)
?/. - c.763-174dup r.(=) p.(=)
?/. - c.817A>G r.(?) p.(Ile273Val)
-?/. - c.937A>G r.(?) p.(Thr313Ala)
-?/. - c.939G>A r.(?) p.(Thr313=)
-?/. - c.1104T>C r.(?) p.(Asn368=)
?/. 16 c.1327G>A r.(?) p.(Gly443Ser)
-?/. - c.1387C>T r.(?) p.(Arg463Cys)
-?/. - c.1580C>T r.(?) p.(Ser527Leu)
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