Transcript #00025650 (NM_001252024.1, TRPM1 gene)

Transcript name transcript variant 3
Gene name TRPM1 (transient receptor potential cation channel, subfamily M, member 1)
Chromosome 15
Transcript - NCBI ID NM_001252024.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001238953.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 2021-10-29 13:00:22 +02:00 (CEST)
Date last edited N/A


Variants

294 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.-1528103_*628880del r.0? p.0?
+/. - c.-1528103_*909821del r.0? p.0?
+/. - c.-1320213_*380459del r.0? p.0?
-/. - c.-59388A>G r.(?) p.(=)
-?/. - c.-59362C>T r.(?) p.(=)
-?/. - c.-59360C>T r.(?) p.(=)
-/. - c.-59360C>T r.(?) p.(=)
?/. - c.-59352C>T r.(?) p.(=)
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+/. - c.-84+2211_965+116del r.? p.?
+?/. - c.-84+2211_965+116del r.? p.?
-?/. - c.-83-5C>G r.spl? p.?
-?/. - c.-83-3T>A r.spl? p.?
+/. - c.0 r.0 p.0
?/. - c.40C>T r.(?) p.(Arg14Trp)
+?/. - c.40C>T r.(?) p.(Arg14Trp)
?/. - c.62C>T r.(?) p.(Pro21Leu)
-/. - c.68T>C r.(?) p.(Met23Thr)
-/. - c.84-16_84-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG r.(=) p.(=)
+?/. - c.84-3C>G r.spl? p.?
+?/. - c.97C>T r.(?) p.(Gln33*)
-?/. - c.144C>A r.(?) p.(Ser48Arg)
+?/. - c.145del r.(?) p.(Asn50Metfs*62)
-/. - c.161G>A r.(?) p.(Ser54Asn)
-?/. - c.258C>T r.(?) p.(Gly86=)
-/. - c.279+86G>C r.(=) p.(=)
?/. - c.279+147T>G r.(=) p.(=)
+?/. - c.281A>G r.(?) p.(Tyr94Cys)
+?/. - c.281A>G r.(?) p.(Tyr94Cys)
?/. - c.281A>G r.(?) p.(Tyr94Cys)
+?/. - c.281A>G r.(?) p.(Tyr94Cys)
+?/. - c.281A>G r.(?) p.(Tyr94Cys)
+?/. - c.281A>G r.(?) p.(Tyr94Cys)
+/. - c.281A>G r.(?) p.(Tyr94Cys)
+/. - c.281A>G r.(?) p.(Tyr94Cys)
+/. - c.281A>G r.(?) p.(Tyr94Cys)
+?/. - c.286C>T r.(?) p.(Arg96Cys)
+?/. - c.286C>T r.(?) p.(Arg96Cys)
+?/. - c.286C>T r.(?) p.(Arg96Cys)
+?/. - c.286C>T r.(?) p.(Arg96Cys)
?/. - c.286C>T r.(?) p.(Arg96Cys)
+?/. - c.362T>C r.(?) p.(Leu121Pro)
+?/. - c.362T>C r.(?) p.(Leu121Pro)
+?/. - c.362T>C r.(?) p.(Leu121Pro)
+/. - c.362T>C r.(?) p.(Leu121Pro)
+/. - c.362T>C r.(?) p.(Leu121Pro)
?/. - c.362T>C r.(?) p.(Leu121Pro)
+?/. - c.362T>C r.(?) p.(Leu121Pro)
+/. - c.380G>A r.(?) p.(Gly127Glu)
?/. - c.448G>T r.(?) p.(Ala150Ser)
?/. - c.460G>A r.(?) p.(Gly154Arg)
+?/. - c.478del r.(?) p.(Gly161Valfs*10)
?/. - c.484G>A r.(?) p.(Val162Ile)
+?/. - c.494-3C>G r.spl? p.?
+?/. - c.494-1G>C r.(?) p.(?)
-/. - c.507C>T r.(?) p.(His169=)
?/. - c.536C>T r.(?) p.(Ser179Phe)
?/. - c.536C>T r.(?) p.(Ser179Phe)
-?/. - c.536C>T r.(?) p.(Ser179Phe)
?/. - c.551G>A r.(?) p.(Arg184Gln)
?/. - c.551G>A r.(?) p.(Arg184Gln)
-/. - c.600A>G r.(?) p.(Glu200=)
-?/. - c.600A>G r.(?) p.(Glu200=)
-?/. - c.615G>A r.(?) p.(Lys205=)
+?/. - c.618+1_618+4del r.spl? p.?
+?/. - c.618+1_618+4del r.spl? p.?
+?/. - c.618+1_618+4del r.spl? p.?
+?/. - c.618+3_618+6del r.spl? p.(?)
+/. - c.618+3_618+6del r.spl? p.?
?/. - c.618+19A>G r.(=) p.(=)
-/. - c.786C>T r.(?) p.(Asn262=)
-/. - c.790+20C>T r.(=) p.(=)
+/. - c.832G>A r.(?) p.(Gly278Arg)
?/. - c.916C>T r.(?) p.(Arg306Cys)
?/. - c.917G>A r.(?) p.(Arg306His)
-?/. - c.924G>A r.(?) p.(Ser308=)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
+/. - c.946A>T r.(?) p.(Lys316*)
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