Transcript #00002584 (NM_213599.2, ANO5 gene)

Transcript name transcript variant 1
Gene name ANO5 (anoctamin 5)
Chromosome 11
Transcript - NCBI ID NM_213599.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_998764.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

991 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_22_ c.-317_*3602{0} r.0 p.0
+?/. _1_7i c.-317_(648+1_649-1)del r.0? p.0?
?/. 1 c.-162A>G r.(?) p.(=)
-/. - c.-136G>C r.(?) p.(=)
?/. 1 c.-136G>C r.(?) p.(=)
-?/. - c.9C>G r.(?) p.(Asp3Glu)
?/. 1 c.11C>G r.(?) p.(Pro4Arg)
+/. 1 c.13del r.(?) p.(Asp5Ilefs*17)
-?/. - c.41-15_41-12del r.(=) p.(=)
?/. 1i c.41-1G>A r.spl p.?
+/. 1i c.41-1G>A r.spl p.?
+/. - c.41-1G>A r.spl p.?
+?/. 1i c.41-1G>A r.spl p.?
+/. 1i c.41-1G>A r.spl p.?
+?/. - c.69C>A r.(?) p.(Tyr23*)
+/. - c.87G>A r.spl p.?
+/. 3 c.108_109del r.(?) p.(Glu36Aspfs*7)
-?/. - c.129A>G r.(?) p.(Glu43=)
-?/. - c.129A>G r.(?) p.(Glu43=)
?/. 3 c.130G>A r.(?) p.(Glu44Lys)
-?/. - c.138+9C>T r.(=) p.(=)
?/. 3i c.138+169G>A r.(=) p.(=)
?/. 3i c.138+206T>C r.(=) p.(=)
+/. 3i c.139-1del r.spl p.?
+/. 3i c.139-1del r.spl p.?
?/. 4 c.139C>T r.(?) p.(Pro47Ser)
?/. 4 c.139C>T r.(?) p.(Pro47Ser)
+/. - c.148C>T r.(?) p.(Arg50*)
+/. - c.148C>T r.(?) p.(Arg50*)
+/. 4 c.148C>T r.(?) p.(Arg50*)
+/. 4 c.148C>T r.(?) p.(Arg50*)
?/. 4 c.149G>A r.(?) p.(Arg50Gln)
?/. - c.155A>G r.(?) p.(Asn52Ser)
-?/. - c.155A>G r.(?) p.(Asn52Ser)
?/. - c.155A>G r.(?) p.(Asn52Ser)
?/. 4 c.155A>G r.(?) p.(Asn52Ser)
+/. 4 c.155A>G r.(?) p.(Asn52Ser)
-?/. - c.155A>G r.(?) p.(Asn52Ser)
+/. 4 c.155A>G r.(?) p.(Asn52Ser)
+/. - c.155A>G r.(?) p.(Asn52Ser)
+/. - c.155A>G r.(?) p.(Asn52Ser)
+/. 4 c.155A>G r.(?) p.(Asn52Ser)
+/. 4 c.155A>G r.(?) p.(Asn52Ser)
+/. 4 c.155A>G r.(?) p.(Asn52Ser)
+/. - c.169C>T r.(?) p.(Arg57Trp)
+/. 4 c.169C>T r.(?) p.(Arg57Trp)
?/. - c.170G>A r.(?) p.(Arg57Gln)
?/. 4 c.170G>A r.(?) p.(Arg57Gln)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
?/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. - c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+?/. - c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+?/. - c.172C>T r.(?) p.(Arg58Trp)
+?/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+?/. - c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. 4 c.172C>T r.(?) p.(Arg58Trp)
+/. - c.173G>A r.(?) p.(Arg58Gln)
+?/. - c.180+2T>C r.spl p.?
-/. - c.180+21T>C r.(=) p.(=)
?/. 4i c.180+223G>A r.(=) p.(=)
?/. 5 c.185A>G r.(?) p.(Gln62Arg)
-?/. - c.185A>G r.(?) p.(Gln62Arg)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. - c.191dup r.(?) p.(Asn64LysfsTer15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. - c.191dup r.(?) p.(Asn64LysfsTer15)
+/. - c.191dup r.(?) p.(Asn64LysfsTer15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)
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