Transcript #00002589 (NM_018075.3, ANO10 gene)

Transcript name transcript variant 1
Gene name ANO10 (anoctamin 10)
Chromosome 3
Transcript - NCBI ID NM_018075.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060545.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

58 entries on 1 page. Showing entries 1 - 58.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-69121T>C r.(?) p.(=)
-/. - c.-69107C>T r.(?) p.(=)
-?/. - c.-83T>C r.(?) p.(=)
-?/. - c.5A>T r.(?) p.(Lys2Ile)
+/. - c.132dup r.(?) p.(Asp45Argfs*9)
?/. - c.223T>A r.(?) p.(Ser75Thr)
?/. - c.236T>G r.(?) p.(Met79Arg)
+/. - c.337+1G>A r.spl? p.?
-?/. - c.472+10_472+12del r.(=) p.(=)
-?/. - c.473-6G>A r.(=) p.(=)
-/. - c.486C>T r.(?) p.(Leu162=)
?/. - c.685G>T r.(?) p.(Gly229Trp)
-/. - c.788G>A r.(?) p.(Arg263His)
-?/. - c.788G>A r.(?) p.(Arg263His)
-?/. - c.790G>A r.(?) p.(Gly264Ser)
-?/. - c.924C>T r.(?) p.(Tyr308=)
?/. - c.964G>A r.(?) p.(Val322Met)
-?/. - c.980A>G r.(?) p.(Tyr327Cys)
-?/. - c.980A>G r.(?) p.(Tyr327Cys)
?/. - c.1009T>G r.(?) p.(Phe337Val)
-?/. - c.1011C>T r.(?) p.(Phe337=)
?/. - c.1021G>C r.(?) p.(Val341Leu)
-/. - c.1066A>G r.(?) p.(Ser356Gly)
-/. - c.1066A>G r.(?) p.(Ser356Gly)
-/. - c.1066A>G r.(?) p.(Ser356Gly)
+/. - c.1144G>T r.(?) p.(Glu382*)
-/. - c.1219-7_1219-6dup r.(=) p.(=)
-?/. - c.1219-6del r.(=) p.(=)
-/. - c.1219-6dup r.(=) p.(=)
-?/. - c.1219-6dup r.(=) p.(=)
-?/. - c.1219-5G>T r.spl? p.?
?/. 8 c.1232A>G r.(?) p.(Asn411Ser)
?/. - c.1282C>G r.(?) p.(Leu428Val)
+/. - c.1291C>T r.(?) p.(Gln431Ter)
-/. - c.1293+9A>G r.(=) p.(=)
-/. - c.1293+9A>G r.(=) p.(=)
-/. - c.1293+9A>G r.(=) p.(=)
-/. - c.1293+26C>T r.(=) p.(=)
-?/. - c.1381G>A r.(?) p.(Val461Met)
-/. - c.1385G>A r.(?) p.(Arg462Gln)
-/. - c.1385G>A r.(?) p.(Arg462Gln)
-/. - c.1385G>A r.(?) p.(Arg462Gln)
-?/. - c.1474T>C r.(?) p.(Leu492=)
+?/. - c.1666C>T r.(?) p.(Gln556*)
-/. - c.1682C>T r.(?) p.(Thr561Met)
-/. - c.1682C>T r.(?) p.(Thr561Met)
-/. - c.1682C>T r.(?) p.(Thr561Met)
-?/. - c.1683G>C r.(?) p.(Thr561=)
-?/. - c.1710C>T r.(?) p.(Asn570=)
+?/. 11i_12i c.1798-81_1914+82del r.(?) p.(His600_Gln638del)
?/. - c.1818G>C r.(?) p.(Lys606Asn)
+?/. - c.1843G>A r.(?) p.(Asp615Asn)
+?/. - c.1864A>G r.(?) p.(Met622Val)
?/. - c.1876A>G r.(?) p.(Arg626Gly)
-?/. - c.1914+17T>A r.(=) p.(=)
?/. - c.1915-5752T>C r.(=) p.(=)
?/. - c.1965del r.(?) p.(Lys656ArgfsTer108)
-?/. - c.*285C>T r.(=) p.(=)
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