Transcript #00018525 (NM_002977.3, SCN9A gene)

Transcript name sodium channel, voltage-gated, type IX, alpha subunit
Gene name SCN9A (sodium channel, voltage-gated, type IX, alpha subunit)
Chromosome 2
Transcript - NCBI ID NM_002977.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002968.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

394 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
?/. - c.20C>T r.(?) p.(Pro7Leu) -
?/. - c.77G>C r.(?) p.(Arg26Pro) -
?/. - c.77G>T r.(?) p.(Arg26Leu) -
?/. - c.118A>G r.(?) p.(Lys40Glu) -
-?/. - c.129T>C r.(?) p.(Asp43=) -
-?/. - c.129T>C r.(?) p.(Asp43=) -
-?/. - c.129T>C r.(?) p.(Asp43=) -
-/. - c.174G>A r.(?) p.(Gln58=) -
-/. - c.174G>A r.(?) p.(Gln58=) -
-/. - c.174G>A r.(=) p.(=) -
-/. - c.174G>A r.(?) p.(Gln58=) -
+/. 2 c.174G>A r.(?) p.(Gln58=) N-terminus
+/. 2 c.184A>G r.(?) p.(Ile62Val) N-terminus
-?/. - c.204C>T r.(?) p.(Pro68=) -
-?/. - c.240C>T r.(?) p.(Pro80=) -
-?/. - c.252C>T r.(?) p.(Asp84=) -
-/. - c.259-79G>A r.(=) p.(=) -
./. - c.269T>C r.(?) p.(Val90Ala) -
./. - c.294C>A r.(?) p.(Phe98Leu) -
?/. - c.361A>C r.(?) p.(Lys121Gln) -
?/. - c.361A>C r.(?) p.(Lys121Gln) -
?/. - c.371T>C r.(?) p.(Val124Ala) -
-/. - c.377+92dup r.(=) p.(=) -
-/. - c.377+93G>T r.(=) p.(=) -
-/. - c.377+93G>T r.(=) p.(=) -
?/. 3i c.377+94A>G r.(=) p.(=) -
-/. - c.377+94A>G r.(=) p.(=) -
-/. - c.377+94A>G r.(=) p.(=) -
?/. 3i c.378-90T>A r.(=) p.(=) -
+/. 4 c.406A>G r.(?) p.(Ile136Val) D1/S1
-/. - c.444A>G r.(?) p.(Pro148=) -
-/. - c.444A>G r.(?) p.(Pro148=) -
-/. - c.444A>G r.(=) p.(=) -
+/. 2 c.444A>G r.(?) p.(Pro148=) D1/S1-S2ex
+/. 4 c.446C>A r.(?) p.(Pro149Gln) D1/S1-S2ex
?/. - c.457A>C r.(?) p.(Lys153Gln) -
-?/. - c.465C>T r.(?) p.(Val155=) -
?/. - c.554G>A r.(?) p.(Arg185His) -
-/. - c.554G>A r.(?) p.(Arg185His) -
-/. - c.554G>A r.(?) p.(Arg185His) -
-?/. - c.554G>A r.(?) p.(Arg185His) -
-?/. - c.554G>A r.(?) p.(Arg185His) -
?/. 5i c.596+25C>T r.(=) p.(=) -
-/. - c.596+25C>T r.(=) p.(=) -
?/. - c.599A>G r.(?) p.(Tyr200Cys) -
+/. 6 c.601T>G r.(?) p.(Leu201Val) D1/S3
+/. 6 c.616A>G r.(?) p.(Asn206Asp) D1/S3-S4ex
?/. - c.619C>G r.(?) p.(Leu207Val) -
+/. 6 c.647T>C r.(?) p.(Phe216Ser) D1/S4
-?/. - c.655T>C r.(?) p.(Leu219=) -
+/. 6 c.684C>G r.(?) p.(Ile228Met) D1/S4
-?/. - c.688+9T>C r.(=) p.(=) -
-/. - c.688+13T>C r.(=) p.(=) -
-/. - c.688+13T>C r.(=) p.(=) -
?/. 6i c.689-217A>G r.(=) p.(=) -
?/. - c.715A>G r.(?) p.(Ile239Val) -
+/. 7 c.721T>A r.(?) p.(Ser241Thr) D1/S4-S5in
+/. 7 c.774_775del r.(?) p.(Val258Valfs*16) D1/S5
?/. - c.796C>A r.(?) p.(Leu266Met) -
+/. 7 c.829C>T r.(?) p.(Arg277*) P1
-?/. - c.876C>T r.(?) p.(Thr292=) -
-?/. - c.965+13T>C r.(=) p.(=) -
-?/. - c.966-8G>A r.(=) p.(=) -
-?/. - c.966-8G>A r.(=) p.(=) -
+/. 9 c.984C>A r.(?) p.(Tyr328*) P1
?/. - c.1007A>C r.(?) p.(Asn336Thr) -
-/. - c.1107+41A>G r.(=) p.(=) -
-/. - c.1107+48C>T r.(=) p.(=) -
?/. - c.1109C>T r.(?) p.(Thr370Met) -
-/. - c.1110G>A r.(?) p.(Thr370=) -
-?/. - c.1110G>A r.(?) p.(Thr370=) -
?/. 10 c.1119T>C r.(?) p.(=) P1
-/. - c.1119T>C r.(?) p.(Ala373=) -
-/. - c.1119T>C r.(?) p.(Ala373=) -
-/. - c.1119T>C r.(=) p.(=) -
?/. - c.1143_1145del r.(?) p.(Phe382del) -
-/. - c.1155G>T r.(?) p.(Val385=) -
-/. - c.1155G>T r.(?) p.(Val385=) -
-/. - c.1155G>T r.(?) p.(Val385=) -
-?/. - c.1177C>T r.(?) p.(Leu393=) -
+/. 10 c.1185C>A r.(?) p.(Asn395Lys) D1/S6
?/. 10 c.1266A>G r.(?) p.(=) L1
-/. - c.1266A>G r.(?) p.(Glu422=) -
-/. - c.1266A>G r.(?) p.(Glu422=) -
-/. - c.1266A>G r.(=) p.(=) -
?/. 10 c.1287T>A r.(?) p.(=) L1
-/. - c.1287T>A r.(?) p.(Arg429=) -
-/. - c.1287T>A r.(?) p.(Arg429=) -
-/. - c.1287T>A r.(=) p.(=) -
?/. - c.1318A>G r.(?) p.(Ile440Val) -
-?/. - c.1326G>A r.(?) p.(Ala442=) -
-?/. - c.1331C>T r.(?) p.(Ala444Val) -
?/. - c.1348A>G r.(?) p.(Ile450Val) -
+/. 11 c.1376C>G r.(?) p.(Ser459*) L1
+/. - c.1376C>G r.(?) p.(Ser459*) -
+/. - c.1376C>G r.(?) p.(Ser459*) -
-?/. - c.1398C>T r.(?) p.(Ser466=) -
-?/. - c.1398C>T r.(?) p.(Ser466=) -
-?/. - c.1398C>T r.(?) p.(Ser466=) -
-?/. - c.1464C>T r.(?) p.(Leu488=) -
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »