Transcript #00010763 (NM_005554.3, KRT6A gene)

Transcript name keratin 6A
Gene name KRT6A (keratin 6A)
Chromosome 12
Transcript - NCBI ID NM_005554.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005545.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

144 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.262G>A r.(?) p.(Gly88Arg)
-/. - c.332G>A r.(?) p.(Gly111Asp)
-/. - c.460C>G r.(?) p.(Pro154Ala)
-/. - c.483T>C r.(?) p.(Ala161=)
+/. - c.487G>A r.(?) p.(Glu163Lys)
+/. - c.487G>A r.(?) p.(Glu163Lys)
+/. - c.491G>C r.(?) p.(Arg164Pro)
-/. - c.495A>G r.(?) p.(Glu165=)
+/. - c.497A>C r.(?) p.(Gln166Pro)
+/. - c.500T>A r.(?) p.(Ile167Asn)
+/. - c.500T>G r.(?) p.(Ile167Ser)
+/. - c.508C>T r.(?) p.(Leu170Phe)
+/. - c.508C>T r.(?) p.(Leu170Phe)
+/. - c.511A>G r.(?) p.(Asn171Asp)
+/. - c.511A>G r.(?) p.(Asn171Asp)
+/. - c.511A>T r.(?) p.(Asn171Tyr)
+/. - c.511A>T r.(?) p.(Asn171Tyr)
+/. - c.512A>C r.(?) p.(Asn171Thr)
+/. - c.512A>G r.(?) p.(Asn171Ser)
+/. - c.512A>G r.(?) p.(Asn171Ser)
+/. - c.512A>G r.(?) p.(Asn171Ser)
+/. - c.512A>G r.(?) p.(Asn171Ser)
+/. - c.512A>G r.(?) p.(Asn171Ser)
+/. - c.512A>G r.(?) p.(Asn171Ser)
+/. - c.512A>G r.(?) p.(Asn171Ser)
+/. - c.513C>A r.(?) p.(Asn171Lys)
+/. - c.513C>A r.(?) p.(Asn171Lys)
+/. - c.513C>A r.(?) p.(Asn171Lys)
+/. - c.513C>A r.513c>a p.Asn171Lys
+/. - c.514_516del r.(?) p.(Asn172del)
+/. - c.514_516del r.(?) p.(Asn172del)
+/. - c.514_516del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.516_518del r.(?) p.(Asn172del)
+/. - c.520T>A r.(?) p.(Phe174Ile)
+/. - c.520T>G r.(?) p.(Phe174Val)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>C r.(?) p.(Phe174Ser)
+/. - c.521T>G r.(?) p.(Phe174Cys)
+/. - c.526T>C r.(?) p.(Ser176Pro)
+/. - c.533T>A r.(?) p.(Ile178Asn)
+/. - c.533T>A r.(?) p.(Ile178Asn)
+/. - c.541-2A>C r.spl p.?
+/. - c.541-2A>C r.spl p.?
+/. - c.541-2A>G r.spl p.(Val181_Gln186del)
+/. - c.541-2A>G r.spl p.(Val181_Gln186del)
+/. - c.541-2A>G r.spl p.(Val181_Gln186del)
+/. - c.541-2A>G r.spl p.?
+/. - c.541-1G>C r.spl p.?
+/. - c.541-1G>C r.spl p.?
+/. - c.541-1G>C r.spl p.?
+/. - c.541-1G>T r.spl p.?
-?/. - c.687C>T r.(?) p.(Val229=)
?/. - c.1244G>A r.(?) p.(Arg415His)
+/. - c.1303C>T r.(?) p.(Gln435Ter)
+/. - c.1381G>A r.(?) p.(Glu461Lys)
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