Transcript #00003144 (NM_022089.2, ATP13A2 gene)

Transcript name transcript variant 1
Gene name ATP13A2 (ATPase type 13A2)
Chromosome 1
Transcript - NCBI ID NM_022089.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_071372.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

148 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-227C>T r.(?) p.(=)
-?/. - c.7G>A r.(?) p.(Ala3Thr)
?/. - c.35C>T r.(?) p.(Thr12Met)
-?/. - c.106-8G>A r.(=) p.(=)
-?/. - c.106-8G>A r.(=) p.(=)
-?/. - c.132A>G r.(?) p.(Pro44=)
-?/. - c.132A>G r.(?) p.(Pro44=)
-?/. - c.233G>A r.(?) p.(Arg78Gln)
?/. - c.244C>A r.(?) p.(Leu82Met)
-?/. - c.244C>A r.(?) p.(Leu82Met)
-?/. - c.244C>A r.(?) p.(Leu82Met)
-/. - c.289-109T>C r.(=) p.(=)
-?/. - c.355C>G r.(?) p.(Pro119Ala)
-/. - c.453C>T r.(?) p.(Ser151=)
-?/. - c.453C>T r.(?) p.(Ser151=)
?/. - c.477+2T>G r.spl? p.?
+?/. - c.477+2T>G r.spl? p.?
-?/. - c.477+10G>A r.(=) p.(=)
-?/. - c.595C>T r.(?) p.(Arg199Cys)
-?/. - c.635+15G>A r.(=) p.(=)
?/. - c.656A>G r.(?) p.(Asn219Ser)
?/. - c.741C>G r.(?) p.(Ser247Arg)
-?/. - c.746C>T r.(?) p.(Ala249Val)
-/. - c.881G>A r.(?) p.(Arg294Gln)
-?/. - c.881G>A r.(?) p.(Arg294Gln)
-?/. - c.881G>A r.(?) p.(Arg294Gln)
-?/. - c.881G>A r.(?) p.(Arg294Gln)
-?/. - c.907+15_907+18del r.(=) p.(=)
+/. - c.942del r.(?) p.(Gly315GlufsTer12)
-?/. - c.951C>T r.(?) p.(Cys317=)
-?/. - c.951C>T r.(?) p.(Cys317=)
-?/. - c.1005C>T r.(=) p.(=)
-?/. - c.1005C>T r.(=) p.(=)
-/. - c.1005C>T r.(?) p.(Ala335=)
-/. - c.1005C>T r.(?) p.(Ala335=)
-?/. - c.1080G>C r.(?) p.(Gly360=)
?/. - c.1111C>T r.(?) p.(Arg371Trp)
-?/. - c.1195+9C>T r.(=) p.(=)
-?/. - c.1195+10G>A r.(=) p.(=)
-/. - c.1195+10G>A r.(=) p.(=)
-?/. - c.1195+10G>A r.(=) p.(=)
-/. - c.1195+66A>G r.(=) p.(=)
-?/. - c.1203C>T r.(?) p.(Cys401=)
-?/. - c.1203C>T r.(?) p.(Cys401=)
-?/. - c.1270C>G r.(?) p.(His424Asp)
-?/. - c.1309C>G r.(?) p.(Leu437Val)
-?/. - c.1314C>A r.(?) p.(Leu438=)
-?/. - c.1326C>T r.(?) p.(Tyr442=)
?/. - c.1351C>T r.(?) p.(Arg451Trp)
-?/. - c.1353+8T>C r.(=) p.(=)
-?/. - c.1536C>T r.(?) p.(Phe512=)
?/. 16 c.1556C>T r.(?) p.(Thr519Ile)
-?/. - c.1572C>T r.(?) p.(Asp524=)
?/. - c.1573G>A r.(?) p.(Val525Met)
-?/. - c.1614C>T r.(?) p.(Pro538=)
-?/. - c.1614C>T r.(?) p.(Pro538=)
-?/. - c.1634G>A r.(?) p.(Arg545His)
-?/. - c.1688G>A r.(?) p.(Arg563Gln)
-/. - c.1815C>T r.(?) p.(Pro605=)
-/. - c.1815C>T r.(?) p.(Pro605=)
-/. - c.1815C>T r.(?) p.(Pro605=)
-?/. - c.1926G>A r.(?) p.(Ala642=)
-?/. - c.1956C>T r.(?) p.(Tyr652=)
-?/. - c.2013C>T r.(?) p.(Thr671=)
-?/. - c.2118A>G r.(?) p.(Gln706=)
-?/. - c.2151C>T r.(?) p.(Ser717=)
-?/. - c.2198C>T r.(?) p.(Thr733Met)
?/. - c.2198C>T r.(?) p.(Thr733Met)
?/. - c.2263C>G r.(?) p.(Gln755Glu)
-?/. - c.2284C>T r.(?) p.(Arg762Trp)
-?/. - c.2304C>T r.(?) p.(Ala768=)
-?/. - c.2326G>C r.(?) p.(Val776Leu)
?/. 22 c.2440G>A r.(?) p.(Val814Met)
+?/. 23 c.2543G>A r.(?) p.(Gly848Asp)
-?/. - c.2556C>T r.(?) p.(Ala852=)
+/. 22 c.2561T>G r.(?) p.(Met854Arg)
+/. - c.2629G>A r.(?) p.(Gly877Arg)
-/. - c.2637C>T r.(?) p.(Gly879=)
-/. - c.2637C>T r.(?) p.(Gly879=)
-/. - c.2637C>T r.(?) p.(Gly879=)
?/. - c.2675G>A r.(?) p.(Gly892Asp)
?/. - c.2699C>T r.(?) p.(Ala900Val)
-?/. - c.2709C>G r.(?) p.(Val903=)
-/. - c.2724G>A r.(?) p.(Ser908=)
-?/. - c.2745C>T r.(?) p.(Cys915=)
+/. - c.2763-1G>A r.spl? p.?
-/. - c.2790G>A r.(?) p.(Ser930=)
-/. - c.2790G>A r.(?) p.(Ser930=)
-/. - c.2790G>A r.(?) p.(Ser930=)
-/. - c.2790G>A r.(?) p.(Ser930=)
-?/. - c.2836A>T r.(?) p.(Ile946Phe)
?/. - c.2836A>T r.(?) p.(Ile946Phe)
?/. - c.2942C>T r.(?) p.(Thr981Met)
-?/. - c.2943G>A r.(?) p.(Thr981=)
-/. - c.2970G>A r.(?) p.(Val990=)
-/. - c.2970G>A r.(?) p.(Val990=)
-/. - c.2970G>A r.(?) p.(Val990=)
?/. - c.2972G>A r.(?) p.(Arg991Gln)
+?/. 26 c.3013_3014del r.(?) p.(Leu1005Alafs*108)
-?/. - c.3030C>T r.(?) p.(Val1010=)
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