Transcript #00000129

Transcript name transcript variant 2
Gene name FASTKD2 (FAST kinase domains 2)
Chromosome 2
Transcript - NCBI ID NM_001136193.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001129665.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

82 entries on 1 page. Showing entries 1 - 82.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-271T>C p.(=) - - - -
./. - - c.-220G>C p.(=) - - - -
./. - - c.-216T>G p.(=) - - - -
./. - - c.-184C>T p.(=) - - - -
./. - - c.-181G>A p.(=) - - - -
./. - - c.-162C>T p.(=) - - - -
./. - - c.-130G>A p.(=) - - - -
./. - - c.-37C>T p.(=) - - - -
./. - - c.-30T>C p.(=) - - - -
./. - - c.-15A>G p.(=) - - - -
./. - - c.44G>A p.(Ser15Asn) - - - -
./. - - c.225A>G p.(=) - - - -
./. - - c.527C>T p.(Ala176Val) - - - -
./. - - c.602G>A p.(Arg201His) - - - -
./. - - c.832G>A p.(Glu278Lys) - - - -
./. - - c.991-13G>C p.(=) - - - -
./. - - c.1294C>T p.(Arg432*) - - - -
+/+ - 7/12 c.1294C>T p.(Arg432*) - stop_gained - -
./. - - c.1295G>A p.(Arg432Gln) - - - -
./. - - c.1428-13C>G p.(=) - - - -
./. - - c.1778C>T p.(Ser593Leu) - - - -
./. - - c.1992A>C p.(=) - - - -
./. - - c.2018A>G p.(Asn673Ser) - - - -
./. - - c.2074A>G p.(Lys692Glu) - - - -
./. - - c.2093C>T p.(Ala698Val) - - - -
./. - - c.*58G>A p.(=) - - - -
./. - - c.*87A>G p.(=) - - - -
./. - - c.*159C>A p.(=) - - - -
./. - - c.*399T>A p.(=) - - - -
./. - - c.*451C>T p.(=) - - - -
./. - - c.*557A>G p.(=) - - - -
./. - - c.*585G>C p.(=) - - - -
./. - - c.*624C>G p.(=) - - - -
./. - - c.*627T>C p.(=) - - - -
./. - - c.*672T>A p.(=) - - - -
./. - - c.*1010T>C p.(=) - - - -
./. - - c.*1036C>T p.(=) - - - -
./. - - c.*1159G>A p.(=) - - - -
./. - - c.*1180G>C p.(=) - - - -
./. - - c.*1202A>T p.(=) - - - -
./. - - c.*1215G>A p.(=) - - - -
./. - - c.*1264_*1265insA p.(=) - - - -
./. - - c.*1335G>T p.(=) - - - -
./. - - c.*1345G>A p.(=) - - - -
./. - - c.*1419_*1430del p.(=) - - - -
./. - - c.*1446A>C p.(=) - - - -
./. - - c.*1452C>A p.(=) - - - -
./. - - c.*1474_*1475insC p.(=) - - - -
./. - - c.*1518_*1519insG p.(=) - - - -
./. - - c.*1621A>G p.(=) - - - -
./. - - c.*1981C>G p.(=) - - - -
./. - - c.*2006_*2007del p.(=) - - - -
./. - - c.*2069T>A p.(=) - - - -
./. - - c.*2107del p.(=) - - - -
./. - - c.*2298C>T p.(=) - - - -
./. - - c.*2316G>A p.(=) - - - -
./. - - c.*2321_*2322insAC p.(=) - - - -
./. - - c.*2331C>T p.(=) - - - -
./. - - c.*2428G>A p.(=) - - - -
./. - - c.*2431C>G p.(=) - - - -
./. - - c.*2488T>C p.(=) - - - -
./. - - c.*2630G>A p.(=) - - - -
./. - - c.*2876A>G p.(=) - - - -
./. - - c.*2960T>C p.(=) - - - -
./. - - c.*3005A>G p.(=) - - - -
./. - - c.*3080C>A p.(=) - - - -
./. - - c.*3112A>G p.(=) - - - -
./. - - c.*3238G>A p.(=) - - - -
./. - - c.*3355C>T p.(=) - - - -
./. - - c.*3380G>A p.(=) - - - -
./. - - c.*3472C>T p.(=) - - - -
./. - - c.*3592C>T p.(=) - - - -
./. - - c.*3593G>A p.(=) - - - -
./. - - c.*3683G>T p.(=) - - - -
./. - - c.*3710C>T p.(=) - - - -
./. - - c.*3775C>T p.(=) - - - -
./. - - c.*3896A>C p.(=) - - - -
./. - - c.*3990G>C p.(=) - - - -
./. - - c.*4142T>C p.(=) - - - -
./. - - c.*4199G>C p.(=) - - - -
./. - - c.*4201C>T p.(=) - - - -
./. - - c.*4360A>G p.(=) - - - -
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