Transcript #00009844 (NM_005534.3, IFNGR2 gene)

Transcript name interferon gamma receptor 2 (interferon gamma transducer 1)
Gene name IFNGR2 (interferon gamma receptor 2 (interferon gamma transducer 1))
Chromosome 21
Transcript - NCBI ID NM_005534.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005525.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

51 entries on 1 page. Showing entries 1 - 51.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+? 1? c.(?_-648)_(73+1_74-1)del r.? p.0?
+/+? - c.? r.74_206del p.Asp25Alafs*14
-?/. - c.37C>T r.(?) p.(Leu13Phe)
-?/. - c.73+26_73+35dup r.(=) p.(=)
?/? 2 c.173C>G r.(?) p.(Thr58Arg)
+/+ 2 c.186del r.(?) p.(Tyr63Thrfs*20)
-?/-? 2 c.191A>G r.(?) p.(Gln64Arg)
-/? 2 c.191A>G r.(?) p.(Gln64Arg)
+?/+? 2 c.194T>G r.(?) p.(Val65Gly)
?/. - c.211G>A r.(?) p.(Asp71Asn)
?/. - c.211G>A r.(?) p.(Asp71Asn)
+/+ 3 c.218_219del r.(?) p.(Lys73Metfs*22)
+/+ 3 c.278_279del r.(?) p.(Glu93Valfs*2)
-?/. - c.308C>T r.(?) p.(Ala103Val)
+/+ 3 c.340C>T r.(?) p.(Arg114Cys)
+/+? 3 c.371C>T r.(?) p.(Ser124Phe)
+/+ 3 c.382_387dup r.(?) p.(Thr128_Met129dup)
+/+ 4 c.421G>A r.(?) p.(Gly141Arg)
+/+ 4 c.421G>A r.(?) p.(Gly141Arg)
?/. - c.422G>A r.(?) p.(Gly141Glu)
?/. - c.439G>A r.(?) p.(Glu147Lys)
?/. - c.442G>A r.(?) p.(Val148Met)
-?/. - c.466A>C r.(?) p.(Ile156Leu)
-?/. - c.466A>C r.(?) p.(Ile156Leu)
?/? 4 c.466A>C r.(?) p.(Ile156Leu)
+/+ 4 c.(503C>A) r.(?) p.(Thr168Asn)
+/+ 4 c.503C>A r.(?) p.(Thr168Asn)
+/+ 4 c.503C>A r.(?) p.(Thr168Asn)
-?/. - c.532C>T r.(?) p.(His178Tyr)
+/+ 4 c.537C>G r.(?) p.(Tyr179*)
-?/. - c.537C>T r.(?) p.(Tyr179=)
?/? 4 c.544A>G r.(?) p.(Lys182Glu)
-/. - c.561+11C>G r.(=) p.(=)
-?/. - c.595T>C r.(?) p.(Leu199=)
-?/. - c.595T>C r.(?) p.(Leu199=)
?/. - c.610C>T r.(?) p.(Pro204Ser)
+/+ 5 c.663_689del r.(?) p.(Phe224_Ile232del)
+/+ 5 c.663_689del r.(?) p.(Phe224_Ile232del)
+/+ 5 c.679G>A r.(?) p.(Gly227Arg)
-?/. - c.685T>C r.(?) p.(Leu229=)
+/. - c.705C>A r.(?) p.(Tyr235*)
+/+ 5 c.705C>A r.(?) p.(Tyr235*)
?/? 5 c.708A>T r.(?) p.(Glu236Asp)
-?/. - c.780G>A r.(?) p.(Ser260=)
+/+ 6 c.791del r.(?) p.(Gly264Glufs*8)
-?/. - c.879+18dup r.(=) p.(=)
-?/. - c.879+32dup r.(=) p.(=)
?/? 7 c.889G>A r.(?) p.(Asp297Asn)
+/+ 7 c.949_950del r.(?) p.(Trp317Glyfs*66)
+/+ 7 c.957dup r.(?) p.(Val320Cysfs*64)
?/. - c.*30135A>G r.(=) p.(=)
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