Transcript #00016448 (NM_173676.2, PNPLA1 gene)

Transcript name transcript variant 1
Gene name PNPLA1 (patatin-like phospholipase domain containing 1)
Chromosome 6
Transcript - NCBI ID NM_173676.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_775947.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-57G>A r.(?) p.(=)
-/. - c.174C>T r.(?) p.(Phe58=)
-/. - c.174C>T r.(?) p.(Phe58=)
+?/. - c.203C>T r.(?) p.(Pro68Leu)
-/. - c.219+11C>T r.(=) p.(=)
-?/. - c.406G>A r.(?) p.(Ala136Thr)
+?/. - c.415C>T r.(?) p.(Pro139Ser)
+?/. - c.419C>T r.(?) p.(Pro140Leu)
+?/. - c.419C>T r.(?) p.(Pro140Leu)
-?/. - c.460G>A r.(?) p.(Glu154Lys)
-?/. - c.460G>A r.(?) p.(Glu154Lys)
-/. - c.578A>G r.(?) p.(Glu193Gly)
-?/. - c.613C>T r.(?) p.(Arg205Trp)
-/. - c.983C>A r.(?) p.(Pro328His)
-/. - c.983C>A r.(?) p.(Pro328His)
-/. - c.1184C>T r.(?) p.(Thr395Met)
-/. - c.1279T>C r.(?) p.(Ser427Pro)
Legend   How to query