Transcript #00008964 (NM_002087.2, GRN gene)

Transcript name granulin
Gene name GRN (granulin)
Chromosome 17
Transcript - NCBI ID NM_002087.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002078.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

411 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 1_2 c.-8+3A>T r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 1_2 c.-8+5G>C r.-8_-7ins3823 0
+/+ 2_12 c.-7-88_1645-7del r.(-7_1644del) p.?
+/+ 2 c.(1A>G) r.(?) 0
+/+ 2 c.2T>C r.(?) 0
+/+ 2 c.2T>C r.(?) 0
+/+ 2 c.(3G>A) r.(?) p.(Met1?)
?/? 2 c.(13G>C) r.(?) p.(Val5Leu)
?/? 2 c.(19T>C) r.(?) p.(Trp7Arg)
?/. - c.19T>C r.(?) p.(Trp7Arg)
?/. - c.19T>G r.(?) p.(Trp7Gly)
-?/. - c.22G>A r.(?) p.(Val8Met)
?/. - c.22G>A r.(?) p.(Val8Met)
+?/. - c.23T>A r.(?) p.(Val8Glu)
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp)
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp)
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp)
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp)
+/+ 2 c.(26C>A) r.(?) p.(Ala9Asp)
-/- 2 c.(42G>A) r.(?) p.(=)
-/. - c.42G>A r.(?) p.(Leu14=)
-/? 2 c.(55C>T) r.(?) p.(Arg19Trp)
-/. - c.55C>T r.(?) p.(Arg19Trp)
+/+ 2 c.(63_64insC) r.(?) p.(Asp22Argfs*43)
+/+ 2 c.(63_64insC) r.(?) p.(Asp22Argfs*43)
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35)
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35)
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35)
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35)
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35)
+/+ 2 c.(87_90dup) r.(?) p.(Cys31Leufs*35)
?/? 2 c.(99C>A) r.(?) p.(Asp33Glu)
?/? 2 c.(99C>A) r.(?) p.(Asp33Glu)
-/? 2 c.(99C>T) r.(?) p.(=)
-/. - c.99C>T r.(?) p.(Asp33=)
-?/. - c.99C>T r.(?) p.(Asp33=)
-?/. - c.99C>T r.(?) p.(Asp33=)
-/. - c.99C>T r.(?) p.(Asp33=)
?/? 2 c.(102C>T) r.(?) p.(=)
+/+ 2 c.(102del) r.(?) p.(Gly35Glufs*19)
+/+ 2 c.(102del) r.(?) p.(Gly35Glufs*19)
+/+ 2 c.(102del) r.(?) p.(Gly35Glufs*19)
?/? 2 c.103G>A r.(?) p.(Gly35Arg)
-?/. - c.128G>A r.(?) p.(Arg43His)
+/+ 1i_2i c.138+1G>A r.-7_138del p.?
+/+ 1i_2i c.138+1G>A r.-7_138del p.?
-?/. - c.139-3T>C r.spl? p.?
+/+ 3 c.(154del) r.(?) p.(Thr52Hisfs*2)
+/+ 3 c.(154del) r.(?) p.(Thr52Hisfs*2)
+/+ 3 c.(154del) r.(?) p.(Thr52Hisfs*2)
+/+ 3 c.(154del) r.(?) p.(Thr52Hisfs*2)
?/? 3 c.154del r.(?) p.(Thr52Hisfs*2)
?/? 3 c.(158T>C) r.(?) p.(Leu53Pro)
-/? 3 c.(163A>T) r.(?) p.(Arg55Trp)
-?/. - c.173G>A r.(?) p.(Gly58Asp)
-/? 3 c.(205G>A) r.(?) p.(Ala69Thr)
-?/. - c.213C>T r.(?) p.(His71=)
-/? 3 c.(228C>T) r.(?) p.(=)
-?/. - c.228C>T r.(?) p.(Thr76=)
+/+ 3 c.(234_235del) r.(?) p.(Gly79Aspfs*39)
+/+ 3 c.(234_235del) r.(?) p.(Gly79Aspfs*39)
+/+ 3 c.(243del) r.(?) p.(Ser82Valfs*174)
+/. - c.243del r.(?) p.(Ser82ValfsTer174)
+/. - c.243del r.(?) p.(Ser82ValfsTer174)
+/+ 3 c.(255del) r.(?) p.(Phe86Serfs*170)
-?/. - c.261A>G r.(?) p.(Pro87=)
?/? 3 c.(264G>A) r.(?) p.(=)
+/+ 3_4 c.(264+2C>T) r.264_265ins34 0
-?/. - c.264+7G>A r.(=) p.(=)
-/. - c.264+7G>A r.(=) p.(=)
-?/. - c.264+7G>A r.(=) p.(=)
-/. - c.264+21G>A r.(=) p.(=)
-/? 4 c.(267C>T) r.(?) p.(=)
-?/. - c.267C>T r.(?) p.(Ala89=)
-/- 4 c.(279G>A) r.(?) p.(=)
-?/. - c.279G>A r.(?) p.(Gly93=)
-?/. - c.279G>A r.(?) p.(Gly93=)
?/? 4 c.(313T>C) r.(?) p.(Cys105Arg)
-/? 4 c.(317G>A) r.(?) p.(Ser106Asn)
-/? 4 c.(324C>T) r.(?) p.(=)
+/+ 4 c.(328C>T) r.(?) p.(Arg110*)
+/+ 4 c.(328C>T) r.(?) p.(Arg110*)
+/+ 4 c.(328C>T) r.(?) p.(Arg110*)
?/? 4 c.(329G>A) r.(?) p.(Arg110Gln)
?/. - c.329G>A r.(?) p.(Arg110Gln)
-?/. - c.349+12G>T r.(=) p.(=)
-/. - c.350-50_350-47dup r.(=) p.(=)
+/+ 5 c.350del r.(350_462del) p.(Asn118Phefs*4)
+/+ 5 c.350del r.(350_462del) p.(Asn118Phefs*4)
-/? 5 c.(355_357del) r.(?) p.(Asn119del)
-/- 5 c.(359C>A) r.(?) p.(Ser120Tyr)
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