Transcript #00023962 (NM_004525.2, LRP2 gene)

Transcript name low density lipoprotein receptor-related protein 2
Gene name LRP2 (low density lipoprotein receptor-related protein 2)
Chromosome 2
Transcript - NCBI ID NM_004525.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004516.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.62C>A r.(?) p.(Ala21Glu)
-/. - c.63G>C r.(?) p.(Ala21=)
-/. - c.63G>C r.(?) p.(Ala21=)
-/. - c.79+15A>G r.(=) p.(=)
-/. - c.79+15A>G r.(=) p.(=)
-/. - c.92C>T r.(?) p.(Ala31Val)
-?/. - c.92C>T r.(?) p.(Ala31Val)
-?/. - c.149C>G r.(?) p.(Thr50Ser)
-?/. - c.149C>G r.(?) p.(Thr50Ser)
-?/. - c.171G>A r.(?) p.(Ala57=)
?/. - c.187G>A r.(?) p.(Ala63Thr)
?/. - c.233G>C r.(?) p.(Gly78Ala)
+?/. 3 c.242T>A r.(?) p.(Ile81Asn)
-/. - c.248A>G r.(?) p.(Asn83Ser)
-/. - c.248A>G r.(?) p.(Asn83Ser)
?/. - c.335A>G r.(?) p.(Gln112Arg)
?/. - c.350A>G r.(?) p.(Asn117Ser)
?/. - c.382G>A r.(?) p.(Asp128Asn)
-?/. - c.391A>G r.(?) p.(Arg131Gly)
-?/. - c.391A>G r.(?) p.(Arg131Gly)
-/. - c.402C>A r.(?) p.(Pro134=)
-?/. - c.403G>A r.(?) p.(Asp135Asn)
-/. - c.428-13_428-8del r.(=) p.(=)
-?/. - c.428-10_428-8del r.(=) p.(=)
-?/. - c.428-9_428-8del r.(=) p.(=)
-/. - c.428-9_428-8del r.(=) p.(=)
-/. - c.428-9_428-8del r.(=) p.(=)
?/. - c.428-6C>A r.(=) p.(=)
-?/. - c.428-6C>A r.(=) p.(=)
-?/. - c.428-3T>A r.spl? p.?
-/. - c.639C>T r.(?) p.(Asp213=)
-/. - c.769+18T>C r.(=) p.(=)
-/. - c.775G>C r.(?) p.(Gly259Arg)
-?/. - c.923-6G>A r.(=) p.(=)
?/. - c.1021A>G r.(?) p.(Asn341Asp)
?/. - c.1094G>A r.(?) p.(Arg365Gln)
?/. - c.1141C>T r.(?) p.(Arg381Cys)
-?/. - c.1172-8G>A r.(=) p.(=)
-/. - c.1172-8G>A r.(=) p.(=)
-?/. - c.1176C>T r.(?) p.(Gly392=)
-?/. - c.1180G>T r.(?) p.(Ala394Ser)
+/. - c.1239del r.(?) p.(Phe414Serfs*4)
-?/. - c.1342-13G>A r.(=) p.(=)
-?/. - c.1346T>A r.(?) p.(Phe449Tyr)
?/. - c.1568A>G r.(?) p.(Tyr523Cys)
-?/. - c.1782A>G r.(?) p.(Val594=)
?/. - c.1792G>A r.(?) p.(Gly598Ser)
+/. - c.1921del r.(?) p.(Ala641Leufs*3)
?/. - c.1973A>G r.(?) p.(Tyr658Cys)
?/. - c.1992A>G r.(?) p.(Lys664=)
-?/. - c.2006G>A r.(?) p.(Gly669Asp)
-/. - c.2006G>A r.(?) p.(Gly669Asp)
-?/. - c.2006G>A r.(?) p.(Gly669Asp)
?/. - c.2024T>C r.(?) p.(Val675Ala)
-/. - c.2025C>T r.(?) p.(Val675=)
-/. - c.2025C>T r.(?) p.(Val675=)
-?/. - c.2079C>T r.(?) p.(Phe693=)
-?/. - c.2079C>T r.(?) p.(Phe693=)
?/. - c.2080G>A r.(?) p.(Gly694Ser)
?/. - c.2137T>G r.(?) p.(Phe713Val)
?/. - c.2168C>T r.(?) p.(Pro723Leu)
-?/. - c.2178G>T r.(?) p.(Leu726Phe)
?/. - c.2178G>T r.(?) p.(Leu726Phe)
?/. - c.2210C>T r.(?) p.(Ser737Leu)
?/. - c.2210C>T r.(?) p.(Ser737Leu)
-?/. - c.2274A>T r.(?) p.(Ser758=)
-/. - c.2320+32_2320+33del r.(=) p.(=)
-?/. - c.2335G>A r.(?) p.(Ala779Thr)
-?/. - c.2342A>G r.(?) p.(Asn781Ser)
-/. - c.2376T>C r.(?) p.(Asp792=)
-?/. - c.2435G>A r.(?) p.(Arg812Lys)
-/. - c.2456G>A r.(?) p.(Arg819His)
-/. - c.2460A>G r.(?) p.(Thr820=)
-/. - c.2460A>G r.(?) p.(Thr820=)
-?/. - c.2511C>T r.(?) p.(Ala837=)
-?/. - c.2511C>T r.(?) p.(Ala837=)
-?/. - c.2602A>T r.(?) p.(Thr868Ser)
-?/. - c.2602A>T r.(?) p.(Thr868Ser)
?/. - c.2603C>G r.(?) p.(Thr868Ser)
-?/. - c.2603C>G r.(?) p.(Thr868Ser)
-?/. - c.2631C>T r.(?) p.(Ile877=)
?/. - c.2688C>G r.(?) p.(His896Gln)
?/. - c.2688C>G r.(?) p.(His896Gln)
?/. - c.2688C>G r.(?) p.(His896Gln)
+/. - c.2770+1G>A r.spl? p.?
?/. - c.2813G>A r.(?) p.(Arg938Gln)
-?/. - c.2917G>A r.(?) p.(Ala973Thr)
./. - c.2933C>T r.(?) p.(Thr978Met)
-?/. - c.2933C>T r.(?) p.(Thr978Met)
-/. - c.2933C>T r.(?) p.(Thr978Met)
?/. - c.2987G>T r.(?) p.(Arg996Leu)
?/. - c.3023C>T r.(?) p.(Ser1008Phe)
-/. - c.3054C>A r.(?) p.(Thr1018=)
-/. - c.3054C>A r.(?) p.(Thr1018=)
-/. - c.3069A>G r.(?) p.(Thr1023=)
-/. - c.3069A>G r.(?) p.(Thr1023=)
-?/. - c.3110G>A r.(?) p.(Arg1037Lys)
-?/. - c.3128A>G r.(?) p.(Tyr1043Cys)
-?/. - c.3145G>A r.(?) p.(Asp1049Asn)
?/. - c.3182G>C r.(?) p.(Gly1061Ala)
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »