Transcript #00010251 (NM_004972.3, JAK2 gene)

Transcript name Janus kinase 2
Gene name JAK2 (Janus kinase 2)
Chromosome 9
Transcript - NCBI ID NM_004972.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004963.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

53 entries on 1 page. Showing entries 1 - 53.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-4781635_*3072208del r.0? p.0?
+/. 11 c.? r.0? p.0?
-?/. - c.132C>T r.(?) p.(Tyr44=)
-?/. - c.137C>A r.(?) p.(Ser46Tyr)
-?/. - c.143G>A r.(?) p.(Gly48Glu)
?/. - c.217A>G r.(?) p.(Lys73Glu)
-?/. - c.337C>G r.(?) p.(Leu113Val)
-/. - c.380G>A r.(?) p.(Gly127Asp)
-/. - c.489C>T r.(?) p.(His163=)
?/. - c.949T>C r.(?) p.(Tyr317His)
?/. - c.1174G>A r.(?) p.(Val392Met)
-?/. - c.1174G>A r.(?) p.(Val392Met)
-?/. - c.1177C>G r.(?) p.(Leu393Val)
-?/. - c.1179T>G r.(?) p.(Leu393=)
?/. - c.1220A>T r.(?) p.(Asp407Val)
-?/. - c.1356T>C r.(?) p.(Cys452=)
?/. - c.1450G>C r.(?) p.(Glu484Gln)
-/. - c.1458T>G r.(?) p.(Val486=)
-?/. - c.1513+8A>G r.(=) p.(=)
+/. - c.1624_1629del r.(?) p.(Asn542_Glu543del)
-?/. - c.1641+6T>C r.(=) p.(=)
-?/. - c.1686C>T r.(?) p.(Gly562=)
-?/. - c.1710C>T r.(?) p.(Tyr570=)
?/. - c.1711G>A r.(?) p.(Gly571Ser)
-?/. - c.1711G>A r.(?) p.(Gly571Ser)
?/. - c.1711G>A r.(?) p.(Gly571Ser)
-?/. - c.1777-6C>T r.(=) p.(=)
-?/. - c.1777-5C>T r.spl? p.?
-?/. - c.1777-2A>T r.spl? p.?
+/? 14 c.1849G>A r.(?) p.(Val617Ile)
+/. - c.1849G>T r.(?) p.(Val617Phe)
+/. - c.1849G>T r.(?) p.(Val617Phe)
-?/. - c.1993-16C>T r.(=) p.(=)
-?/. - c.2132-15C>T r.(=) p.(=)
?/. - c.2183A>C r.(?) p.(Lys728Thr)
-?/. - c.2460C>T r.(?) p.(Asp820=)
-?/. - c.2488C>T r.(?) p.(Leu830=)
-?/. - c.2488C>T r.(?) p.(Leu830=)
-/. - c.2490G>A r.(?) p.(Leu830=)
+/. - c.2624C>A r.(?) p.(Thr875Asn)
?/. - c.2767C>T r.(?) p.(Arg923Cys)
?/. - c.2768G>A r.(?) p.(Arg923His)
-?/. - c.2850C>T r.(?) p.(His950=)
?/. - c.2882G>C r.(?) p.(Cys961Ser)
?/. - c.2893G>A r.(?) p.(Glu965Lys)
-?/. - c.3060-9T>C r.(=) p.(=)
-?/. - c.3130C>T r.(?) p.(Leu1044=)
?/. - c.3187C>T r.(?) p.(Arg1063Cys)
?/. - c.3188G>A r.(?) p.(Arg1063His)
-?/. - c.3291+6A>C r.(=) p.(=)
-?/. - c.3323A>G r.(?) p.(Asn1108Ser)
+?/. - c.3334C>T r.(?) p.(Gln1112*)
?/. - c.3355C>G r.(?) p.(Leu1119Val)
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