Transcript #00009952 (NM_005535.1, IL12RB1 gene)

Transcript name transcript variant 1
Gene name IL12RB1 (interleukin 12 receptor, beta 1)
Chromosome 19
Transcript - NCBI ID NM_005535.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_005526.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

357 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+? 12 c.? r.? p.(?)
+/+? 12 c.? r.? p.(?)
+/? 12 c.? r.? p.(Cys474Ser)
+/+? 14 c.? r.? p.?
+/+? 7i-7 c.? r.700_701insTTGGTTTGGTTCTGATTGCAG p.(Pro233_Glu234insVGLVLIA)
-?/. - c.-51C>T r.(?) p.(=)
?/? 1 c.-32C>T r.(?) p.(=)
?/? 1 c.-2C>T r.(?) p.(=)
-/. - c.-2C>T r.(?) p.(=)
?/? 1 c.8C>A r.(?) p.(Pro3Gln)
?/+? 1 c.21G>A r.(?) p.(Trp7*)
+?/+? 1 c.21G>A r.(?) p.(Trp7*)
+/? 1 c.21G>A r.(?) p.(Trp7*)
+?/+? 1 c.21G>A r.(?) p.(Trp7*)
+/+? 1i c.64+1G>T r.spl? p.?
+/+? 1i c.64+2T>G r.spl? p.?
+/+? 1i c.64+2T>G r.spl? p.?
+/+? 1i c.64+2T>G r.spl? p.?
+/+ 1i c.64+2T>G r.spl? p.?
+/+ 1i c.64+2T>G r.spl? p.?
+/+ 1i c.64+2T>G r.spl? p.?
+/+ 1i c.64+2T>G r.spl? p.?
+/+ 1i c.64+2T>G r.spl? p.?
+/+ 1i c.64+2T>G r.spl? p.?
+/+ 1i c.64+2T>G r.spl? p.?
+/+? 1i c.64+5G>A r.spl? p.?
+/+? 2 c.69_72del r.(?) p.(Cys24Glufs*26)
?/? 2 c.74G>A r.(?) p.(Arg25Lys)
+/+ 2 c.94C>T r.(?) p.(Gln32*)
+/+? 2 c.94C>T r.(?) p.(Gln32*)
+/+? 2 c.94C>T r.(?) p.(Gln32*)
+/+? 2 c.94C>T r.(?) p.(Gln32*)
+/+ 2 c.94C>T r.(?) p.(Gln32*)
?/? 2 c.99C>T r.(?) p.(=)
?/? 2 c.100C>T r.(?) p.(Pro34Ser)
?/? 2 c.101C>T r.(?) p.(Pro34Leu)
?/? 2 c.102G>A r.(?) p.(=)
?/? 2 c.105A>G r.(?) p.(=)
?/? 2 c.110C>T r.(?) p.(Pro37Leu)
?/? 3 c.128C>T r.(?) p.(Ser43Leu)
?/? 3 c.134C>T r.(?) p.(Ser45Leu)
?/? 3 c.138C>T r.(?) p.(=)
?/? 3 c.139C>T r.(?) p.(Pro47Ser)
?/? 3 c.152G>C r.(?) p.(Arg51Thr)
?/+? 3 c.153_154insC r.(?) p.(Cys52Leufs*7)
+/+ 3 c.169del r.(?) p.(Ser57Valfs*73)
+/+ 3 c.169del r.(?) p.(Ser57Valfs*73)
?/? 3 c.176G>A r.(?) p.(Arg59His)
?/? 3 c.179A>G r.(?) p.(Tyr60Cys)
-?/. - c.180C>T r.(?) p.(Tyr60=)
?/? 3 c.180C>T r.(?) p.(=)
?/? 3 c.181G>A r.(?) p.(Glu61Lys)
+/+? 3 c.182A>G r.(?) p.(Glu61Gly)
+/+? 3 c.184T>G r.(?) p.(Cys62Gly)
+/+ 3 c.191G>A r.(?) p.(Trp64*)
?/. - c.222C>G r.(?) p.(Ser74Arg)
-/- 3 c.222C>G r.(?) p.(Ser74Arg)
+/+? 3 c.230T>C r.(?) p.(Leu77Pro)
?/? 4 c.253C>T r.(?) p.(Arg85Cys)
+/+ 4 c.264C>G r.(?) p.(Tyr88*)
+/+ 4 c.264C>G r.(?) p.(Tyr88*)
+/+ 4 c.264C>G r.(?) p.(Tyr88*)
+/+ 4 c.264C>G r.(?) p.(Tyr88*)
+/+ 4 c.264C>G r.(?) p.(Tyr88*)
?/? 4 c.268G>A r.(?) p.(Ala90Thr)
?/? 4 c.270C>T r.(?) p.(=)
-?/-? 4 c.271G>A r.(?) p.(Ala91Thr)
-?/. - c.273C>T r.(?) p.(Ala91=)
?/? 4 c.273C>T r.(?) p.(=)
?/? 4 c.279A>G r.(?) p.(=)
?/+? 4 c.288del r.(?) p.(Arg96Serfs*34)
?/? 4 c.300C>T r.(?) p.(=)
?/. - c.301G>A r.(?) p.(Asp101Asn)
?/? 4 c.320T>C r.(?) p.(Val107Ala)
+/+? 4 c.350C>A r.(?) p.(Ser117Tyr)
?/? 4 c.387G>C r.(?) p.(=)
?/? 4 c.390C>T r.(?) p.(=)
+/+? 4 c.402C>A r.(?) p.(Tyr134*)
-?/. - c.467G>A r.(?) p.(Arg156His)
-/- 5 c.467G>A r.(?) p.(Arg156His)
-/. - c.467G>A r.(?) p.(Arg156His)
-/. - c.467G>A r.(?) p.(Arg156His)
+/+? 5 c.467_483del r.410_549del p.(Val137Glyfs*8)
+/+? 5 c.512A>C r.(?) p.(Gln171Pro)
+/+? 5 c.512A>C r.(?) p.(Gln171Pro)
+/+ 5 c.512A>C r.(?) p.(Gln171Pro)
+/+? 5 c.517C>T r.(?) p.(Arg173Trp)
+/+? 5 c.517C>T r.(?) p.(Arg173Trp)
+/+ 5 c.517C>T r.(?) p.(Arg173Trp)
+/+ 5 c.517C>T r.(?) p.(Arg173Trp)
+/+ 5 c.517C>T r.(?) p.(Arg173Trp)
+/+? 5 c.518G>C r.(?) p.(Arg173Pro)
+/+? 5 c.518G>C r.(?) p.(Arg173Pro)
+/+ 5 c.518G>C r.(?) p.(Arg173Pro)
+/+? 5 c.518G>C r.(?) p.(Arg173Pro)
+/+ 5 c.518G>C r.(?) p.(Arg173Pro)
+/+ 5 c.518G>C r.518G>C p.Arg173Pro
+/+? 5 c.523C>T r.(?) p.(Arg175Trp)
+/+? 5 c.523C>T r.(?) p.(Arg175Trp)
+/+ 5 c.523C>T r.(?) p.(Arg175Trp)
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