Transcript #00010022 (NM_016247.3, IMPG2 gene)

Transcript name interphotoreceptor matrix proteoglycan 2
Gene name IMPG2 (interphotoreceptor matrix proteoglycan 2)
Chromosome 3
Transcript - NCBI ID NM_016247.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_057331.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.3423‐7_3423‐4del r.spl? p.?
-?/. - c.-18C>A r.(?) p.(=)
?/. - c.21T>G r.(?) p.(Phe7Leu)
?/. - c.21T>G r.(?) p.(Phe7Leu)
?/. - c.32C>A r.(?) p.(Ser11Tyr)
-?/. - c.57G>C r.(?) p.(Leu19=)
?/. - c.68dup r.(?) p.(Asp23Glufs*29)
-?/. - c.85+9A>T r.(=) p.(=)
+/. - c.89_92del r.(?) p.(Gln30Profs*5)
+/. - c.118G>T r.(?) p.(Glu40*)
?/. - c.176C>G r.(?) p.(Ala59Gly)
+?/. - c.189dup r.(?) p.(Gln64Thrfs*9)
+?/. - c.189dup r.(?) p.(Gln64Thrfs*9)
+/. - c.198_201dup r.(?) p.(Arg68Glyfs*6)
-?/. - c.222G>A r.(?) p.(Gln74=)
?/. - c.256C>G r.(?) p.(Pro86Ala)
?/. - c.263G>T r.(?) p.(Gly88Val)
-?/. - c.276C>T r.(?) p.(Cys92=)
?/. - c.283G>A r.(?) p.(Glu95Lys)
?/. - c.331C>T r.(?) p.(Arg111*)
?/. - c.332G>C r.(?) p.(Arg111Pro)
-/. - c.335-13C>T r.(=) p.(=)
?/. - c.359C>T r.(?) p.(Ala120Val)
?/. - c.370T>C r.(?) p.(Phe124Leu)
+?/. 3 c.370T>C r.(?) p.(Phe124Leu)
+?/. - c.370T>C r.(?) p.(Phe124Leu)
?/. - c.370T>C r.(?) p.(Phe124Leu)
+/. - c.379C>T r.(?) p.(Arg127Ter)
+/. 3 c.379C>T r.(?) p.(Arg127*)
+?/. 3 c.379C>T r.(?) p.(Arg127*)
+/. - c.379C>T r.(?) p.(Arg127Ter)
+/. - c.379C>T r.(?) p.(Arg127Ter)
+?/. - c.380G>C r.(?) p.(Arg127Pro)
?/. - c.391C>T r.(?) p.(Arg131Cys)
?/. - c.392G>A r.(?) p.(Arg131His)
-?/. - c.392G>A r.(?) p.(Arg131His)
+?/. - c.411G>A r.(?) p.(Trp137*)
?/. - c.470A>C r.(?) p.(Glu157Ala)
-/. - c.490T>C r.(?) p.(Leu164=)
+/. - c.513T>G r.(?) p.(Tyr171*)
+/. - c.513T>G r.(?) p.(Tyr171*)
+?/. - c.513T>G r.(?) p.(Tyr171Ter)
+/. - c.513T>G r.(?) p.(Tyr171Ter)
+/. - c.513T>G r.(?) p.(Tyr171Ter)
+?/. - c.533+4_533+7del r.spl? p.(?)
+?/. - c.534-5dup r.spl? p.(?)
-/. - c.534-5dup r.spl? p.?
-/. - c.534-5dup r.spl? p.?
?/. - c.534-4dup r.spl? p.?
?/. - c.534-4dup r.spl? p.(?)
?/. - c.595A>G r.(?) p.(Ser199Gly)
+/. 6 c.635C>G r.(?) p.(Ser212*)
+/. - c.636del r.(?) p.(Glu213Argfs*18)
+/. 6 c.636del r.(?) p.(Glu213Argfs*18)
-/. - c.666+10G>A r.(=) p.(=)
-/. - c.666+10G>A r.(=) p.(=)
+/. - c.676G>T r.(?) p.(Glu226*)
+/. - c.676G>T r.(?) p.(Glu226*)
+?/. - c.727G>C r.(?) p.(Ala243Pro)
+?/. - c.745C>T r.(?) p.(Leu249Phe)
?/. - c.745C>T r.(?) p.(Leu249Phe)
-?/. - c.745C>T r.(?) p.(Leu249Phe)
?/. - c.745C>T r.(?) p.(Leu249Phe)
+?/. - c.826G>T r.(?) p.(Glu276*)
+/. - c.828+1G>A r.spl p.?
+/. - c.828+1G>A r.spl p.(?)
-/. - c.828+20dup r.(=) p.(=)
+/. - c.829-1G>T r.spl p.?
?/. - c.871C>G r.(?) p.(Arg291Gly)
+/. 8i_9i c.887+430_908+274del r.888_908del p.Arg296_Asp302del
+/. - c.909-802_1154-539del r.909_1153del p(?)
+?/. - c.911G>A r.(?) p.(Gly304Asp)
?/. - c.926A>G r.(?) p.(Tyr309Cys)
?/. - c.952A>G r.(?) p.(Ile318Val)
+?/. - c.1100dup r.(?) p.(Leu367Phefs*12)
+?/. - c.1135T>C r.(?) p.(Ser379Pro)
-/. - c.1140G>A r.(?) p.(Leu380=)
?/. - c.1151A>G r.(?) p.(Asn384Ser)
-?/. - c.1151A>G r.(?) p.(Asn384Ser)
+?/. - c.1153+5G>T r.(?) p.?
?/. - c.1169G>A r.(?) p.(Arg390His)
-?/. - c.1169G>A r.(?) p.(Arg390His)
?/. - c.1187T>C r.(?) p.(Leu396Pro)
?/. - c.1219G>T r.(?) p.(Ala407Ser)
?/. - c.1219G>T r.(?) p.(Ala407Ser)
?/. - c.1240-3C>A r.spl? p.?
+/. - c.1263G>A r.(?) p.(Trp421*)
?/. - c.1300C>T r.(?) p.(Pro434Ser)
?/. - c.1300C>T r.(?) p.(Pro434Ser)
?/. - c.1301_1303del r.(?) p.(Pro434del)
?/. - c.1382C>G r.(?) p.(Thr461Arg)
+?/. - c.1382C>G r.(?) p.(Thr461Arg)
+?/. 12 c.1483C>T r.(?) p.(Gln495*)
-/. - c.1495C>A r.(?) p.(Pro499Thr)
-?/. - c.1495C>A r.(?) p.(Pro499Thr)
?/. - c.1514G>C r.(?) p.(Arg505Thr)
-?/. - c.1544-20A>C r.(=) p.(=)
+/. - c.1565C>G r.(?) p.(Ser522*)
?/. - c.1582A>G r.(?) p.(Ile528Val)
?/. - c.1582A>G r.(?) p.(Ile528Val)
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