Transcript #00018517 (NM_021007.2, SCN2A gene)

Transcript name transcript variant 1
Gene name SCN2A (sodium channel, voltage-gated, type II, alpha subunit)
Chromosome 2
Transcript - NCBI ID NM_021007.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_066287.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

311 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     
./. - c.-572276_*862220del r.0? p.0?
-/. - c.-166413C>T r.(?) p.(=)
-?/. - c.-166394T>G r.(?) p.(=)
-?/. - c.-166273A>G r.(?) p.(=)
+/. - c.-163949A>G r.(?) p.(=)
-?/. - c.-163927G>A r.(?) p.(=)
?/. - c.-162927A>G r.(?) p.(=)
?/. - c.-156259T>C r.(?) p.(=)
-?/. - c.-156233T>C r.(?) p.(=)
-?/. - c.-156060C>A r.(?) p.(=)
-?/. - c.-154677C>T r.(?) p.(=)
?/. - c.-153462C>A r.(?) p.(=)
?/. - c.-153357G>A r.(?) p.(=)
-?/. - c.-153267C>A r.(?) p.(=)
-?/. - c.-147396G>A r.(?) p.(=)
?/. - c.-147396G>A r.(?) p.(=)
-?/. - c.-147177G>A r.(?) p.(=)
-?/. - c.-138416A>G r.(?) p.(=)
-?/. - c.-138356G>T r.(?) p.(=)
?/. - c.-131884C>T r.(?) p.(=)
?/. - c.-131455A>G r.(?) p.(=)
?/. - c.-130539G>A r.(?) p.(=)
?/. - c.-129744G>A r.(?) p.(=)
?/. - c.-129674A>G r.(?) p.(=)
-?/. - c.-125407T>A r.(?) p.(=)
-/. - c.-117963A>G r.(?) p.(=)
?/. - c.-117874G>A r.(?) p.(=)
?/. - c.-117824G>T r.(?) p.(=)
./. - c.-51-225_2389-114dup r.? p.?
-/. - c.-51-61A>G r.(=) p.(=)
?/. 1 c.16C>A r.(?) p.(Leu6Met)
-/. - c.56G>A r.(?) p.(Arg19Lys)
-/. - c.82C>T r.(?) p.(Arg28Cys)
?/. - c.82C>T r.(?) p.(Arg28Cys)
-?/. - c.82C>T r.(?) p.(Arg28Cys)
./. - c.100G>A r.(?) p.(Ala34Thr)
-?/. - c.100G>A r.(?) p.(Ala34Thr)
?/. - c.115C>T r.(?) p.(Gln39Ter)
-/. - c.267+51G>A r.(=) p.(=)
-?/. - c.268-52T>C r.(=) p.(=)
-?/. - c.268-44A>G r.(=) p.(=)
-/. - c.268-28A>G r.(=) p.(=)
-?/. - c.270G>A r.(?) p.(Thr90=)
+/. - c.304C>T r.(?) p.(Arg102Ter)
./. - c.304C>T r.(?) p.(Arg102*)
-/. - c.386+17C>T r.(=) p.(=)
?/. - c.386+46C>G r.(=) p.(=)
-/. - c.387-135del r.(=) p.(=)
-?/. - c.387-99G>T r.(=) p.(=)
-?/. - c.387-39T>G r.(=) p.(=)
?/. - c.387-32A>G r.(=) p.(=)
-/. - c.387-10G>A r.(=) p.(=)
+/. - c.408G>T r.(?) p.(Met136Ile)
-?/. - c.414G>A r.(?) p.(Thr138=)
+?/. - c.415A>G r.(?) p.(Ile139Val)
-?/. - c.432A>G r.(?) p.(Val144=)
?/. - c.488C>G r.(?) p.(Thr163Arg)
./. - c.515T>G r.(?) p.(Ile172Ser)
+/. - c.562C>T r.(?) p.(Arg188Trp)
./. - c.605+1G>A r.spl? p.?
+/. - c.605+1G>A r.spl? p.?
-?/. - c.605+57T>A r.(=) p.(=)
?/. - c.606-138T>A r.(=) p.(=)
+?/. - c.623T>C r.(?) p.(Val208Ala)
+/. - c.623T>G r.(?) p.(Val208Gly)
-?/. - c.697+64G>A r.(=) p.(=)
-/. - c.697+103T>C r.(=) p.(=)
-?/. - c.697+124G>A r.(=) p.(=)
+?/. - c.730T>C r.(?) p.(Ser244Pro)
+/. - c.781G>A r.(?) p.(Val261Met)
+/. - c.781G>A r.(?) p.(Val261Met)
+/. - c.788C>T r.(?) p.(Ala263Val)
+/. - c.788C>T r.(?) p.(Ala263Val)
+/. - c.823C>T r.(?) p.(Arg275Ter)
?/. - c.881C>T r.(?) p.(Ser294Phe)
?/. - c.923A>G r.(?) p.(Asn308Ser)
?/. - c.934A>G r.(?) p.(Ser312Gly)
?/. - c.970+6A>T r.(=) p.(=)
-/. - c.971-32A>G r.(=) p.(=)
+?/. - c.971-3T>G r.spl? p.?
+?/. - c.971-2A>G r.spl? p.?
-/. - c.1035-163A>G r.(=) p.(=)
-?/. - c.1035-55C>A r.(=) p.(=)
?/. - c.1035-26C>G r.(=) p.(=)
-/. - c.1035-19T>G r.(=) p.(=)
-/. - c.1035-3T>C r.spl? p.?
-/. - c.1035-3T>C r.spl? p.?
?/. - c.1094C>T r.(?) p.(Thr365Met)
+?/. - c.1094C>T r.(?) p.(Thr365Met)
+/. - c.1119del r.(?) p.(Leu375Cysfs*7)
+?/. - c.1160A>G r.(?) p.(Glu387Gly)
-?/. - c.1176+41A>C r.(=) p.(=)
+?/. - c.1184G>A r.(?) p.(Arg395His)
?/. - c.1210T>C r.(?) p.(Phe404Leu)
?/. 10 c.1220T>C r.(?) p.(Leu407Pro)
-?/. - c.1269G>A r.(?) p.(Val423=)
+/. - c.1283A>G r.(?) p.(Tyr428Cys)
?/. - c.1376A>C r.(?) p.(Glu459Ala)
?/. - c.1399G>T r.(?) p.(Ala467Ser)
?/. - c.1399G>T r.(?) p.(Ala467Ser)
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »