Transcript #00024144 (NM_000053.3, ATP7B gene)

Transcript name transcript variant 1
Gene name ATP7B (ATPase, Cu++ transporting, beta polypeptide)
Chromosome 13
Transcript - NCBI ID NM_000053.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000044.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2016-06-12 12:42:33 +02:00 (CEST)
Date last edited N/A


Variants

767 entries on 8 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
-?/. _1 - r.(=) p.(=)
-?/. _1 - r.(=) p.(=)
?/. _1 - r.(=) p.(=)
?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
+?/. _1 - r.(=) p.(=)
?/. _1 - r.(=) p.(=)
-?/. - c.-1107C>G r.(?) p.(=)
+?/. - c.-408T>C r.(?) p.(=)
+?/. 1 c.-123_-119dup r.(?) p.(=)
+?/. 1 c.-123_-119dup r.(?) p.(=)
+?/. 1 c.-123_-119dup r.(?) p.(=)
-/. - c.-75C>A r.(?) p.(=)
-/. - c.-75C>A r.(?) p.(=)
+?/. 1 c.-75C>A r.(?) p.(=)
-/. - c.-75C>A r.(?) p.(=)
+?/. 1 c.-75C>A r.(?) p.(=)
+?/. 1 c.-75C>A r.(?) p.(=)
+?/. 1 c.-75C>A r.(?) p.(=)
+?/. 1 c.-75C>A r.(?) p.(=)
+?/. 1 c.-75C>A r.(?) p.(=)
+?/. 1 c.-75C>A r.(?) p.(=)
+?/. 1 c.-75C>A r.(?) p.(=)
+?/. _1 - r.(=|red) p.(=|red)
+/. _1 - r.(=|red) p.(=|red)
+/. 2_21_ c.615_*2087{0} r.? p.?
+/. - c.19_20del r.(?) p.(Gln7AspfsTer14)
-?/. - c.19_20del r.19_20del p.(Pro2_Met33del)
-?/. - c.19_20del r.(?) p.(Pro2_Met33del)
-?/. - c.29C>T r.(?) p.(Ala10Val)
+/. - c.51+4A>T r.spl? p.?
+/. - c.51+4A>T r.spl? p.?
-?/. - c.92C>T r.(?) p.(Pro31Leu)
-?/. - c.98T>C r.(?) p.(Met33Thr)
-?/. - c.98T>C r.(?) p.(Met33Thr)
+?/. - c.122A>G r.(?) p.(Asn41Ser)
+?/. - c.122A>G r.(?) p.(Asn41Ser)
+?/. - c.122A>G r.(?) p.(Asn41Ser)
+/. 2 c.174dup r.(?) p.(Thr59HisfsTer19)
+/. 2 c.174dup r.(?) p.(Thr59HisfsTer19)
-/. 2 c.199A>G r.(?) p.(Met67Val)
-?/. - c.226A>G r.(?) p.(Ile76Val)
+/. - c.254G>T r.(?) p.(Gly85Val)
-?/. - c.278T>G r.(?) p.(Leu93Arg)
-?/. - c.325C>T r.(?) p.(Leu109=)
-?/. - c.325C>T r.(?) p.(Leu109=)
+/. 2 c.366_373dup r.(?) p.(Ile125ArgfsTer31)
+/. 2 c.366_373dup r.(?) p.(Ile125ArgfsTer31)
-/. 2 c.406A>G r.(?) p.(Arg136Gly)
?/. - c.406A>G r.(?) p.(Arg136Gly)
-?/. - c.437A>G r.(?) p.(Lys146Arg)
?/. - c.442C>T r.(?) p.(Arg148Trp)
-?/. - c.445G>A r.(?) p.(Val149Met)
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11)
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11)
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11)
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11)
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11)
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11)
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11)
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11)
?/. - c.459C>T r.(?) p.(Thr153=)
?/. - c.482T>C r.(?) p.(Ile161Thr)
+/. - c.505C>T r.(?) p.(Gln169Ter)
?/. - c.511G>T r.(?) p.(Val171Leu)
-?/. - c.550G>A r.(?) p.(Val184Ile)
+/. 2 c.561T>A r.(?) p.(Tyr187Ter)
+/. 2 c.561T>A r.(?) p.(Tyr187Ter)
+/. 2 c.561T>A r.(?) p.(Tyr187Ter)
+/. - c.577C>T r.(?) p.(Gln193*)
-?/. - c.662C>A r.(?) p.(Pro221Gln)
+?/. - c.670dup r.(?) p.(Ile224AsnfsTer2)
-?/. - c.677G>A r.(?) p.(Arg226Gln)
-/. 2 c.684A>G r.(?) p.(Gln228=)
+/. 2 c.813C>A r.(?) p.(Cys271Ter)
+/. 2 c.813C>A r.(?) p.(Cys271Ter)
+/. 2 c.813C>A r.(?) p.(Cys271Ter)
+/. 2 c.813C>A r.(?) p.(Cys271Ter)
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.