Transcript #00000284

Transcript name keratocan
Gene name KERA (keratocan)
Chromosome 12
Transcript - NCBI ID NM_007035.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_008966.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-132C>T benign - -
-/. - c.-131A>C benign - -
-?/. - c.27G>A likely benign r.(?) p.(Met9Ile)
-/. - c.69G>A benign r.(=) p.(=)
+?/+? 2 c.320T>G - r.(?) p.(Ile107Arg)
+?/+? 2 c.391A>G - r.(391a>g) p.(Asn131Asp)
+/+ 2 c.520C>T - r.(520c>u) p.(Gln174*)
+?/+? 2 c.644C>A - r.(644c>a) p.(Thr215Lys)
+/. - c.740A>G pathogenic r.(?) p.(Asn247Ser)
+?/+? 2 c.740A>G - r.(740a>g) p.(Asn247Ser)
+/+ 2 c.835C>T - r.(835c>u) p.(Arg279*)
-/. - c.887-8C>T benign r.(=) p.(=)
+/+ 3 c.937C>T - r.(937c>u) p.(Arg313*)
+/+ 3 c.1026delC - r.(1026delc) p.(Cys343Alafs*26)
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