Transcript #00009843 (NM_000416.2, IFNGR1 gene)

Transcript name interferon gamma receptor 1
Gene name IFNGR1 (interferon gamma receptor 1)
Chromosome 6
Transcript - NCBI ID NM_000416.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000407.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

439 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/- 1 c.-56T>C r.(?) p.(=)
+/+ 1_7 c.0 r.0 p.0
+/+ 1_7 c.0 r.0 p.0
+/? - c.? r.(?) p.?
+/+ 1 c.2T>A r.(?) p.(Met1Lys)
?/? 1 c.2T>G r.(?) p.Met1Arg
?/? 1 c.4G>A r.(?) p.Ala2Thr
?/? 1 c.5C>G r.(?) p.Ala2Gly
?/? 1 c.5C>T r.(?) p.(Ala2Val)
+?/? 1 c.5C>T r.(?) p.(Ala2Val)
?/? 1 c.9C>G r.(?) p.Leu3Leu
?/? 1 c.12C>T r.(?) p.Leu4Leu
?/? 1 c.13T>C r.(?) p.Phe5Leu
?/? 1 c.25C>G r.(?) p.Leu9Val
+/+ 1 c.25del r.(?) p.Val10Serfs*5
?/? 1 c.26T>A r.(?) p.Leu9His
?/-? 1 c.30C>T r.(?) p.Val10Val
?/-? 1 c.31A>T r.(?) p.Met11Leu
?/-? 1 c.38G>T r.(?) p.Gly13Val
-/- 1 c.40G>A r.(?) p.(Val14Met)
?/-? 1 c.42G>A r.(?) p.Val14Val
?/-? 1 c.46A>C r.(?) p.Arg16Arg
-?/. - c.48G>A r.(?) p.(Arg16=)
?/-? 1 c.48G>A r.(?) p.Arg16Arg
?/? 1 c.52G>A r.(?) p.Glu18Lys
?/-? 1 c.58G>C r.(?) p.Gly20Arg
?/-? 1 c.63C>T r.(?) p.Thr21Thr
?/+? 1 c.65C>T r.(?) p.Ala22Val
?/-? 1 c.73G>C r.(?) p.Gly25Arg
?/+? 1 c.76C>T r.(?) p.Pro26Ser
?/-? 1 c.77C>T r.(?) p.Pro26Leu
?/+? 1 c.80C>T r.(?) p.Ser27Phe
?/-? 1 c.81C>T r.(?) p.Ser27Ser
?/-? 1 c.84A>G r.(?) p.Ser28Ser
-/. - c.85+10T>C r.(=) p.(=)
./. - c.86-1_93del r.spl? p.?
?/-? 2 c.92C>G r.(?) p.Thr31Arg
?/-? 2 c.93A>T r.(?) p.Thr31Thr
?/-? 2 c.96A>C r.(?) p.Pro32Pro
?/+? 2 c.100A>G r.(?) p.Asn34Asp
-?/. - c.100A>G r.(?) p.(Asn34Asp)
+/+? 2 c.104_107dup r.(?) p.(Ile37Tyrfs*3)
+/+ 2 c.105dup r.(?) p.(Thr36Tyrfs*3)
+/+ 2 c.105dup r.(?) p.(Thr36Tyrfs*3)
+/+ 2 c.106_107insT r.(?) p.(Thr36Ilefs*3)
+?/. - c.110T>C r.(?) p.(Ile37Thr)
?/+? 2 c.110T>C r.(?) p.Ile37Thr
+/+ 2 c.110T>C r.(?) p.Ile37Thr
?/-? 2 c.111T>C r.(?) p.Ile37Ile
+/+ - c.114_135del r.(?) p.(Ser39Tyrfs*16)
+/+? 2 c.114_135del r.(?) Ser39Tyrfs*16
?/-? 2 c.117C>T r.(?) p.Ser39Ser
?/+? 2 c.130C>T r.(?) p.Pro44Ser
?/+? 2 c.131C>G r.(?) p.Pro44Arg
+/+ 2 c.131del r.(?) p.Pro44Leufs*18
?/-? 2 c.133A>G r.(?) p.Ile45Val
?/-? 2 c.135C>T r.(?) p.Ile45Ile
?/-? 2 c.136G>A r.(?) p.Val46Ile
?/-? 2 c.139T>C r.(?) p.Tyr47His
?/+? 2 c.144_153del r.(?) p.Trp48*
?/+? 2 c.152A>G r.(?) p.Gln51Arg
?/-? 2 c.156C>T r.(?) p.Ile52Ile
?/-? 2 c.159G>A r.(?) p.Met53Ile
?/+? 2 c.164A>G r.(?) p.Gln55Arg
?/+? 2 c.165G>C r.(?) p.Gln55His
+/+? 2 c.166del r.(?) p.Val56Serfs*6
?/-? 2 c.167T>G r.(?) p.Val56Gly
+/+ 2 c.170del r.(?) p.(Pro57Leufs*5)
?/-? 2 c.180C>T r.(?) p.Thr60Thr
-/- 2 c.181G>A r.(?) p.(Val61Ile)
?/. - c.181G>A r.(?) p.(Val61Ile)
+/+ 2 c.182T>A r.(?) p.Val61Glu
?/+? 2 c.182T>C r.(?) p.Val61Ala
?/+? 2 c.184G>A r.(?) p.Glu62Lys
+/+ 2 c.188T>G r.(?) p.(Val63Gly)
+/+ 2 c.188T>G r.(?) p.(Val63Gly)
+/+ 2 c.188T>G r.(?) p.(Val63Gly)
+/+ 2 c.188T>G r.(?) p.(Val63Gly)
+/+ 2 c.188T>G r.(?) p.(Val63Gly)
+/. - c.188T>G r.(?) p.(Val63Gly)
+/+ 2 c.197A>G r.(?) p.(Tyr66Cys)
?/+? 2 c.197A>T r.(?) p.Tyr66Phe
+/+? 2i c.200+1G>A RNA undetectable p.(splicing?)
+/+ 2i c.201-2A>G 201-302del p.(Asn70_Lys103del)
+/. - c.201-1G>C r.spl? p.?
+/+ i2 c.201-1G>T r.spl? p.?
?/-? 3 c.213A>C r.(?) p.Ser71Ser
?/-? 3 c.216A>G r.(?) p.Glu72Glu
-?/. - c.216A>G r.(?) p.(Glu72=)
?/-? 3 c.222T>A r.(?) p.Ile74Ile
?/+? 3 c.224A>T r.(?) p.Asp75Gly
?/+? 3 c.226G>A r.(?) p.Ala76Thr
?/-? 3 c.227C>T r.(?) p.Ala76Val
+/+ 3 c.230G>A r.(?) p.Cys77Tyr
+/+ 3 c.230G>T r.(?) p.(Cys77Phe)
?/+? 3 c.236A>G r.(?) p.Asn79Ser
?/-? 3 c.246T>C r.(?) p.His82His
?/+? 3 c.250T>C r.(?) p.Tyr84His
?/+? 3 c.251A>T r.(?) p.Tyr84Phe
+/+ 3 c.254G>A r.(?) p.(Cys85Tyr)
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »