Transcript #00025244 (NM_001031710.2, KLHL7 gene)

Transcript name transcript variant 1
Gene name KLHL7 (kelch-like family member 7)
Chromosome 7
Transcript - NCBI ID NM_001031710.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001026880.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2017-11-13 07:33:25 +01:00 (CET)
Date last edited N/A


Variants

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

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. 1 c.-235G>T r.(=) p.(=)
?/. 1 c.-235G>T r.(=) p.(=)
?/. 1 c.-235G>T r.(=) p.(=)
?/. 1 c.-118G>A r.(=) p.(=)
+/. - c.? r.? p.?
-?/. - c.21G>A r.(?) p.(Glu7=)
?/. 1 c.53A>G r.? p.?
?/. 1 c.53A>G r.? p.?
?/. 1 c.53A>G r.? p.?
?/. 1 c.53A>G r.? p.?
+?/. 1 c.112C>T r.(?) p.(Arg38Trp)
?/. - c.120+3A>G r.spl? p.?
-?/. - c.126G>A r.(?) p.(Thr42=)
+?/. 2 c.181_183del r.? p.?
+/. 3 c.247del r.(?) p.(Phe83Leufs*3)
+/. 3 c.247del r.(?) p.(Phe83Leufs*3)
-/. - c.317+126C>G r.(=) p.(=)
-/. - c.352C>T r.(?) p.(=)
?/. 4 c.352C>T r.(=) p.(=)
+?/. - c.422T>C r.(?) p.(Val141Ala)
+?/. - c.422T>C r.(?) p.(Val141Ala)
+?/. 4 c.422T>C r.(?) p.(Val141Ala)
+/. - c.422T>C r.(?) p.(Val141Ala)
+?/. - c.433A>G r.(?) p.(Asn145Asp)
+?/. - c.433A>G r.(?) p.(Asn145Asp)
+?/. - c.433A>G r.(?) p.(Asn145Asp)
+?/. - c.433A>G r.(?) p.(Asn145Asp)
+?/. - c.433A>G r.(?) p.(Asn145Asp)
+/. - c.433A>G r.(?) p.(Asn145Asp)
+/. 4 c.433A>G r.(?) p.(Asn145Asp)
+?/. - c.433A>G r.(?) p.(Asn145Asp)
+?/. - c.433A>G r.(?) p.(Asn145Asp)
+/. - c.433A>G r.(?) p.(Asn145Asp)
+?/. - c.433A>T r.(?) p.(Asn145Tyr)
+/. 4 c.433A>T r.(?) p.(Asn145Tyr)
+?/. - c.440T>A r.(?) p.(Leu147His)
+?/. 5 c.449G>A r.(?) p.(Ser150Asn)
+?/. 5 c.449G>A r.(?) p.(Ser150Asn)
+?/. - c.449G>A r.(?) p.(Ser150Asn)
+?/. - c.449G>A r.(?) p.(Ser150Asn)
+?/. 5 c.457G>A r.(?) p.(Ala153Thr)
+?/. 5 c.457G>A r.(?) p.(Ala153Thr)
+?/. - c.458C>T r.(?) p.(Ala153Val)
+/. - c.458C>T r.(?) p.(Ala153Val)
+/. - c.458C>T r.(?) p.(Ala153Val)
+/. 5 c.458C>T r.(?) p.(Ala153Val)
+/. 5 c.458C>T r.(?) p.(Ala153Val)
+/. 5 c.458C>T r.(?) p.(Ala153Val)
+/. - c.458C>T r.(?) p.(Ala153Val)
+?/. 5 c.458C>T r.(?) p.(Ala153Val)
+?/. 5 c.458C>T r.(?) p.(Ala153Val)
+?/. 5 c.458C>T r.(?) p.(Ala153Val)
+?/. 5 c.458C>T r.(?) p.(Ala153Val)
+/. 5 c.458C>T r.(?) p.(Ala153Val)
+/. 5 c.458C>T r.(?) p.(Ala153Val)
+?/. - c.458C>T r.(?) p.(Ala153Val)
+/. - c.458C>T r.(?) p.(Ala153Val)
+/. 5 c.458C>T r.(?) p.(Ala153Val)
-/. - c.459G>A r.(?) p.(Ala153=)
+?/. - c.472T>C r.(?) p.(Cys158Arg)
?/. - c.472T>C r.(?) p.(Cys158Arg)
+/. 5 c.472T>C r.(?) p.(Cys158Arg)
+/. 5 c.472T>C r.(?) p.(Cys158Arg)
+?/. 5 c.474+1G>A r.spl? p.?
+?/. 5 c.474+1G>A r.spl? p.?
+?/. - c.506T>A r.(?) p.(Ile169Asn)
-?/. - c.513G>A r.(?) p.(Gln171=)
?/. 5 c.513G>A r.(=) p.(=)
-?/. - c.513G>A r.(?) p.(Gln171=)
+?/. - c.514C>G r.(?) p.(His172Asp)
+?/. - c.598_601del r.(?) p.(Thr200*)
+?/. 5 c.614A>G r.(?) p.(Asp205Gly)
+?/. - c.618+1G>A r.spl? p.?
-?/. - c.618+19C>T r.(=) p.(=)
?/. - c.665G>A r.(?) p.(Arg222His)
-?/. - c.738G>A r.(?) p.(Thr246=)
?/. 6 c.763G>A r.(?) p.(Asp255Asn)
./. - c.793+4006_*9718117del r.? p.?
?/. - c.797G>A r.(?) p.(Gly266Glu)
?/. 7 c.816G>A r.(=) p.(=)
+?/. 7 c.935_936+19del r.? p.?
-?/. - c.936+5C>A r.spl? p.?
+?/. - c.969del r.(?) p.(Phe323LeufsTer15)
?/. - c.1006A>C r.(?) p.(Asn336His)
-?/. - c.1007A>T r.(?) p.(Asn336Ile)
+/. 8 c.1022del r.(?) p.(Leu341Trpfs*9)
+/. 8 c.1022del r.(?) p.(Leu341Trpfs*9)
+?/. 8 c.1051C>T r.(?) p.(Arg351*)
+?/. 8 c.1051C>T r.(?) p.(Arg351*)
+?/. 8 c.1115G>A r.(?) p.(Arg372Gln)
+?/. 8 c.1147A>T r.(?) p.(Lys383*)
?/. 8i c.1177+77C>T r.(=) p.(=)
+?/. 9 c.1258C>T r.(?) p.(Arg420Cys)
+?/. 9 c.1261T>A r.(?) p.(Cys421Ser)
-/. 9 c.1267C>T r.(?) p.(His423Tyr)
?/. - c.1272G>T r.(?) p.(Gly424=)
?/. 9 c.1353T>C r.(=) p.(=)
-?/. - c.1374A>G r.(?) p.(Thr458=)
?/. - c.1378A>G r.(?) p.(Thr460Ala)
?/. 9i c.1380-12T>G r.(=) p.(=)
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.