Transcript #00003060 (NM_152296.4, ATP1A3 gene)

Transcript name transcript variant 1
Gene name ATP1A3 (ATPase, Na+/K+ transporting, alpha 3 polypeptide)
Chromosome 19
Transcript - NCBI ID NM_152296.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_689509.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

284 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.6+3A>G r.spl? p.?
-?/. - c.7-5C>T r.spl? p.?
-?/. - c.18T>C r.(?) p.(Asp6=)
?/. - c.56G>A r.(?) p.(Arg19His)
?/. - c.128G>A r.(?) p.(Arg43Gln)
-?/. - c.154-5C>G r.spl? p.?
-?/. - c.154-5C>G r.spl? p.?
-?/. - c.154-5C>G r.spl? p.?
?/. - c.191G>A r.(?) p.(Arg64Gln)
?/. - c.193G>C r.(?) p.(Asp65His)
-/. - c.207A>T r.(?) p.(Ala69=)
-/. - c.207A>T r.(?) p.(Ala69=)
-?/. - c.219G>A r.(?) p.(Pro73=)
?/. - c.283T>C r.(?) p.(Trp95Arg)
+/. - c.298C>G r.(?) p.(Leu100Val)
-?/. - c.357C>T r.(?) p.(Asn119=)
-?/. - c.357C>T r.(?) p.(Asn119=)
-?/. - c.357C>T r.(?) p.(Asn119=)
-?/. - c.357C>T r.(?) p.(Asn119=)
-/. - c.363C>T r.(?) p.(Tyr121=)
-?/. - c.363C>T r.(?) p.(Tyr121=)
+/. - c.410C>A r.(?) p.(Ser137Tyr)
+/. 5 c.410C>A r.(?) p.(Ser137Tyr)
+?/. 5 c.410C>A r.(?) p.(Ser137Tyr)
+/. 5 c.410C>T r.(?) p.(Ser137Phe)
+/. 5 c.410C>T r.(?) p.(Ser137Phe)
+/. 5 c.419A>T r.(?) p.(Gln140Leu)
?/. - c.446A>G r.(?) p.(Glu149Gly)
+?/. - c.467C>T r.(?) p.(Pro156Leu)
+/. 7 c.658G>A r.(?) p.(Asp220sn)
-/. - c.666T>G r.(?) p.(Thr222=)
-/. - c.666T>G r.(?) p.(Thr222=)
-/. - c.666T>G r.(?) p.(Thr222=)
-/. - c.666T>G r.(?) p.(Thr222=)
?/. - c.689G>A r.(?) p.(Arg230Gln)
-?/. - c.816G>A r.(?) p.(Thr272=)
-?/. - c.816G>A r.(?) p.(Thr272=)
-/. - c.816G>A r.(?) p.(Thr272=)
+/. - c.821T>A r.(?) p.(Ile274Asn)
+/. 8 c.821T>A r.(?) p.(Ile274Asn)
+/. 8 c.821T>C r.(?) p.(Ile274Thr)
+/. 8 c.829G>A r.(?) p.(Glu277Lys)
+/. 8 c.829G>A r.(?) p.(Glu277Lys)
?/. - c.884C>T r.(?) p.(Ser295Phe)
-?/. - c.909C>T r.(?) p.(Leu303=)
?/. - c.955G>A r.(?) p.(Val319Met)
./. - c.964G>A r.(?) p.(Val322Ile)
+/. - c.965T>A r.(?) p.(Val322Asp)
+?/. - c.971A>G r.(?) p.(Glu324Gly)
+?/. - c.973G>C r.(?) p.(Gly325Arg)
+?/. - c.974G>A r.(?) p.(Gly325Asp)
+/. 8 c.979_981del r.(?) p.(Leu327del)
?/. - c.992C>T r.(?) p.(Thr331Ile)
-?/. - c.994-20T>G r.(=) p.(=)
-/. - c.994-20T>G r.(=) p.(=)
-?/. - c.994-20T>G r.(=) p.(=)
-/. - c.994-20T>G r.(=) p.(=)
?/. - c.994-3C>G r.spl? p.?
+/. 9 c.998G>T r.(?) p.(Cys333Phe)
+/. 9 c.998G>T r.(?) p.(Cys333Phe)
-?/. - c.1005G>A r.(?) p.(Thr335=)
+/. - c.1012G>C r.(?) p.(Ala338Pro)
-?/. - c.1017G>A r.(?) p.(Lys339=)
+?/. - c.1063_1065del r.(?) p.(Glu355del)
+?/. - c.1073G>T r.(?) p.(Gly358Val)
+?/. - c.1076C>A r.(?) p.(Ser359Tyr)
+/. - c.1109C>A r.(?) p.(Thr370Asn)
+/. 9 c.1109C>A r.(?) p.(Thr370Asn)
+?/. 9 c.1109C>A r.(?) p.(Thr370Asn)
-?/. - c.1164C>A r.(?) p.(His388Gln)
-?/. - c.1164C>T r.(?) p.(His388=)
-?/. - c.1192+6C>T r.(=) p.(=)
-?/. - c.1192+6C>T r.(=) p.(=)
-?/. - c.1193-4C>G r.spl? p.?
-?/. - c.1193-4C>G r.spl? p.?
-?/. - c.1193-4C>G r.spl? p.?
-?/. - c.1260C>T r.(?) p.(Arg420=)
-?/. - c.1303-15C>A r.(=) p.(=)
-?/. - c.1323G>A r.(?) p.(Ala441=)
-?/. - c.1323G>A r.(?) p.(Ala441=)
-/. - c.1323G>A r.(?) p.(Ala441=)
-?/. - c.1323G>A r.(?) p.(Ala441=)
-?/. - c.1323G>A r.(?) p.(Ala441=)
?/. - c.1328_1333del r.(?) p.(Glu443_Ser444del)
?/. - c.1387C>T r.(?) p.(Arg463Cys)
+?/. - c.1387C>T r.(?) p.(Arg463Cys)
-?/. - c.1413C>T r.(?) p.(Pro471=)
?/. - c.1456G>A r.(?) p.(Glu486Lys)
?/. - c.1472A>G r.(?) p.(Asn491Ser)
-?/. - c.1527C>T r.(?) p.(Ser509=)
-?/. - c.1605C>T r.(?) p.(Leu535=)
+/. - c.1765G>T r.(?) p.(Val589Phe)
?/. - c.1774G>A r.(?) p.(Ala592Thr)
+/. - c.1787G>A r.(?) p.(Cys596Tyr)
?/. - c.1806+1G>A r.spl? p.?
?/. - c.1822G>A r.(?) p.(Gly608Ser)
+/. 14 c.1838C>T r.(?) p.(Thr613Met)
+/. 14 c.1838C>T r.(?) p.(Thr613Met)
+/. 14 c.1838C>T r.(?) p.(Thr613Met)
-?/. - c.1906G>A r.(?) p.(Ala636Thr)
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