KRT6C (keratin 6C) - Rat Genome Database

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Gene: KRT6C (keratin 6C) Homo sapiens
Analyze
Symbol: KRT6C
Name: keratin 6C
RGD ID: 1351268
HGNC Page HGNC:20406
Description: Predicted to be a structural constituent of skin epidermis. Involved in intermediate filament cytoskeleton organization. Located in extracellular exosome. Implicated in focal or diffuse nonepidermolytic palmoplantar keratoderma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CK-6C; CK-6E; cytokeratin-6C; cytokeratin-6E; K6C; K6E; keratin 6C, type II; keratin 6E; keratin K6h; keratin, type II cytoskeletal 6C; keratin-6C; KRT6E; MGC102925; MGC163455; MGC163457; PPKNEFD; type-II keratin Kb12
RGD Orthologs
Rat
Bonobo
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381252,468,516 - 52,473,805 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,468,516 - 52,473,805 (-)EnsemblGRCh38hg38GRCh38
GRCh371252,862,300 - 52,867,589 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,148,567 - 51,153,836 (-)NCBINCBI36Build 36hg18NCBI36
Build 341251,148,861 - 51,153,824NCBI
Celera1252,508,540 - 52,513,809 (-)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1249,906,198 - 49,911,468 (-)NCBIHuRef
CHM1_11252,829,152 - 52,834,426 (-)NCBICHM1_1
T2T-CHM13v2.01252,433,115 - 52,438,404 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7543104   PMID:9054461   PMID:11683385   PMID:12477932   PMID:16541075   PMID:16831889   PMID:19380743   PMID:19609311   PMID:20081885   PMID:20085233   PMID:20301457   PMID:21145461  
PMID:21565611   PMID:21873635   PMID:23533145   PMID:23662636   PMID:23686814   PMID:24711643   PMID:25324306   PMID:25416956   PMID:26301947   PMID:26496610   PMID:26725010   PMID:27229929  
PMID:27503909   PMID:28515276   PMID:28977666   PMID:29357356   PMID:29845934   PMID:29859926   PMID:30021884   PMID:31324722   PMID:31527668   PMID:31768767   PMID:31862882   PMID:32296183  
PMID:32576198   PMID:32853985   PMID:32989256   PMID:35509067   PMID:35575683   PMID:35941108   PMID:36057605   PMID:36215168   PMID:36517590   PMID:36949045   PMID:37071682   PMID:37120454  
PMID:37314216  


Genomics

Comparative Map Data
KRT6C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381252,468,516 - 52,473,805 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1252,468,516 - 52,473,805 (-)EnsemblGRCh38hg38GRCh38
GRCh371252,862,300 - 52,867,589 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,148,567 - 51,153,836 (-)NCBINCBI36Build 36hg18NCBI36
Build 341251,148,861 - 51,153,824NCBI
Celera1252,508,540 - 52,513,809 (-)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1249,906,198 - 49,911,468 (-)NCBIHuRef
CHM1_11252,829,152 - 52,834,426 (-)NCBICHM1_1
T2T-CHM13v2.01252,433,115 - 52,438,404 (-)NCBIT2T-CHM13v2.0
Krt6c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87134,678,316 - 134,682,753 (-)NCBIGRCr8
mRatBN7.27132,799,608 - 132,804,045 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7132,799,616 - 132,804,045 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7134,592,867 - 134,597,269 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07136,822,398 - 136,826,800 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07136,731,890 - 136,736,327 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07143,290,296 - 143,317,563 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7143,312,546 - 143,317,707 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.07141,116,410 - 141,117,049 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Cytogenetic Map7q36NCBI
KRT6C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21041,722,833 - 41,728,121 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11241,719,596 - 41,724,884 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01236,290,422 - 36,295,663 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11237,068,038 - 37,072,912 (+)NCBIpanpan1.1PanPan1.1panPan2

Variants

.
Variants in KRT6C
117 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_173086.5(KRT6C):c.510CAA[2] (p.Asn172del) microsatellite Focal palmoplantar keratoderma [RCV001799618]|not provided [RCV000057500] Chr12:52473220..52473222 [GRCh38]
Chr12:52867004..52867006 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_173086.5(KRT6C):c.1414G>A (p.Glu472Lys) single nucleotide variant Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV000114418]|not provided [RCV000255266] Chr12:52469680 [GRCh38]
Chr12:52863464 [GRCh37]
Chr12:12q13.13		 pathogenic|likely pathogenic
NM_173086.4(KRT6C):c.1411G>A (p.Gly471Ser) single nucleotide variant Malignant melanoma [RCV000070043] Chr12:52469683 [GRCh38]
Chr12:52863467 [GRCh37]
Chr12:51149734 [NCBI36]
Chr12:12q13.13		 not provided
NM_173086.5(KRT6C):c.1384_1410del (p.Ile462_Glu470del) deletion Focal palmoplantar keratoderma [RCV001799616]|not provided [RCV000057499] Chr12:52469684..52469710 [GRCh38]
Chr12:52863468..52863494 [GRCh37]
Chr12:12q13.13		 pathogenic|not provided
NM_173086.4(KRT6C):c.513_515delCAA (p.Asn172del) deletion not provided [RCV000057500] Chr12:52473223..52473225 [GRCh38]
Chr12:52867007..52867009 [GRCh37]
Chr12:12q13.13		 not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1 copy number loss See cases [RCV000140716] Chr12:50633888..52851909 [GRCh38]
Chr12:51027671..53245693 [GRCh37]
Chr12:49313938..51531960 [NCBI36]
Chr12:12q13.12-13.13		 pathogenic
GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1 copy number loss See cases [RCV000142033] Chr12:50122359..53248460 [GRCh38]
Chr12:50516142..53642244 [GRCh37]
Chr12:48802409..51928511 [NCBI36]
Chr12:12q13.12-13.13		 pathogenic
NM_005555.3(KRT6B):c.-16752_-90del deletion Normal pregnancy [RCV000161679] Chr12:52452168..52468830 [GRCh38]
Chr12:52845952..52862614 [GRCh37]
Chr12:12q13.13		 not provided
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_173086.5(KRT6C):c.106A>G (p.Ile36Val) single nucleotide variant Inborn genetic diseases [RCV003240237]|not provided [RCV003389928] Chr12:52473632 [GRCh38]
Chr12:52867416 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
NM_173086.5(KRT6C):c.816+13A>G single nucleotide variant Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731076]|not provided [RCV004707698] Chr12:52471659 [GRCh38]
Chr12:52865443 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.755+13T>C single nucleotide variant Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731077]|not provided [RCV004709130] Chr12:52472053 [GRCh38]
Chr12:52865837 [GRCh37]
Chr12:12q13.13		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q13.13(chr12:52845952-52862783)x1 copy number loss not provided [RCV000750413] Chr12:52845952..52862783 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.700C>G (p.Arg234Gly) single nucleotide variant not provided [RCV001532695] Chr12:52472121 [GRCh38]
Chr12:52865905 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1080C>T (p.Tyr360=) single nucleotide variant not provided [RCV000900836] Chr12:52470628 [GRCh38]
Chr12:52864412 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1524C>T (p.Gly508=) single nucleotide variant not provided [RCV000899999] Chr12:52469233 [GRCh38]
Chr12:52863017 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1257A>C (p.Ala419=) single nucleotide variant KRT6C-related disorder [RCV003978163]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001730739]|not provided [RCV000947454] Chr12:52469837 [GRCh38]
Chr12:52863621 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_173086.5(KRT6C):c.1467A>G (p.Val489=) single nucleotide variant not provided [RCV000915769] Chr12:52469290 [GRCh38]
Chr12:52863074 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.891C>T (p.Phe297=) single nucleotide variant not provided [RCV000917140] Chr12:52471442 [GRCh38]
Chr12:52865226 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1353G>A (p.Leu451=) single nucleotide variant not provided [RCV000959270] Chr12:52469741 [GRCh38]
Chr12:52863525 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1045C>A (p.Arg349=) single nucleotide variant not provided [RCV000954143] Chr12:52471164 [GRCh38]
Chr12:52864948 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1424+3A>G single nucleotide variant not provided [RCV000915770] Chr12:52469667 [GRCh38]
Chr12:52863451 [GRCh37]
Chr12:12q13.13		 likely benign
GRCh37/hg19 12q13.13(chr12:52845951-52865918)x1 copy number loss not provided [RCV000847843] Chr12:52845951..52865918 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh37/hg19 12q13.13(chr12:52864293-52880704)x1 copy number loss not provided [RCV000848633] Chr12:52864293..52880704 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1544A>C (p.Tyr515Ser) single nucleotide variant Inborn genetic diseases [RCV002540898]|not provided [RCV000915872] Chr12:52469213 [GRCh38]
Chr12:52862997 [GRCh37]
Chr12:12q13.13		 likely benign|uncertain significance
NM_173086.5(KRT6C):c.897A>G (p.Arg299=) single nucleotide variant not provided [RCV000896243] Chr12:52471436 [GRCh38]
Chr12:52865220 [GRCh37]
Chr12:12q13.13		 likely benign
GRCh37/hg19 12q13.13(chr12:52845951-52865918)x1 copy number loss not provided [RCV000846226] Chr12:52845951..52865918 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh37/hg19 12q13.13(chr12:52845923-52865918)x1 copy number loss not provided [RCV000848370] Chr12:52845923..52865918 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh37/hg19 12q13.13(chr12:52845951-52865918)x1 copy number loss not provided [RCV000846866] Chr12:52845951..52865918 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.951C>T (p.Ser317=) single nucleotide variant not provided [RCV000955445] Chr12:52471258 [GRCh38]
Chr12:52865042 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.879T>C (p.Asp293=) single nucleotide variant KRT6C-related disorder [RCV003930770]|not provided [RCV000890130] Chr12:52471454 [GRCh38]
Chr12:52865238 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.873C>T (p.Leu291=) single nucleotide variant not provided [RCV000957063] Chr12:52471460 [GRCh38]
Chr12:52865244 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1460-10C>A single nucleotide variant KRT6C-related disorder [RCV003984087]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731073]|not provided [RCV002073963] Chr12:52469307 [GRCh38]
Chr12:52863091 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.183G>A (p.Leu61=) single nucleotide variant KRT6C-related disorder [RCV003976128]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731083]|not provided [RCV004707703] Chr12:52473555 [GRCh38]
Chr12:52867339 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.180T>C (p.Ser60=) single nucleotide variant KRT6C-related disorder [RCV003976130]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731085]|not provided [RCV004709133] Chr12:52473558 [GRCh38]
Chr12:52867342 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.417C>T (p.Thr139=) single nucleotide variant Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731081]|not provided [RCV004707701] Chr12:52473321 [GRCh38]
Chr12:52867105 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1568T>A (p.Ile523Asn) single nucleotide variant not provided [RCV001356385] Chr12:52469189 [GRCh38]
Chr12:52862973 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1694A>G (p.Ter565=) single nucleotide variant KRT6C-related disorder [RCV003963812] Chr12:52469063 [GRCh38]
Chr12:52862847 [GRCh37]
Chr12:12q13.13		 pathogenic|likely benign
NM_173086.5(KRT6C):c.495del (p.Glu165fs) deletion Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001331843] Chr12:52473243 [GRCh38]
Chr12:52867027 [GRCh37]
Chr12:12q13.13		 pathogenic
NM_173086.5(KRT6C):c.1477A>G (p.Ile493Val) single nucleotide variant Inborn genetic diseases [RCV002567959]|not provided [RCV001502762] Chr12:52469280 [GRCh38]
Chr12:52863064 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1503C>T (p.Ser501=) single nucleotide variant KRT6C-related disorder [RCV003976124]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731072]|not provided [RCV002073962] Chr12:52469254 [GRCh38]
Chr12:52863038 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1314G>A (p.Lys438=) single nucleotide variant KRT6C-related disorder [RCV003976126]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731075]|not provided [RCV002073965] Chr12:52469780 [GRCh38]
Chr12:52863564 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.687C>G (p.Val229=) single nucleotide variant KRT6C-related disorder [RCV003976127]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731078]|not provided [RCV004707699] Chr12:52472134 [GRCh38]
Chr12:52865918 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.545G>A (p.Arg182Gln) single nucleotide variant Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731079]|not provided [RCV004709131] Chr12:52472276 [GRCh38]
Chr12:52866060 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.198C>A (p.Gly66=) single nucleotide variant KRT6C-related disorder [RCV003984088]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731082]|not provided [RCV004707702] Chr12:52473540 [GRCh38]
Chr12:52867324 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.181C>T (p.Leu61=) single nucleotide variant KRT6C-related disorder [RCV003976129]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731084]|not provided [RCV004709132] Chr12:52473557 [GRCh38]
Chr12:52867341 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1441G>A (p.Val481Ile) single nucleotide variant KRT6C-related disorder [RCV003976125]|Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731074]|not provided [RCV002073964] Chr12:52469429 [GRCh38]
Chr12:52863213 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.428G>A (p.Ser143Asn) single nucleotide variant Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [RCV001731080]|not provided [RCV004707700] Chr12:52473310 [GRCh38]
Chr12:52867094 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1023C>T (p.Tyr341=) single nucleotide variant KRT6C-related disorder [RCV003933568]|not provided [RCV002130405] Chr12:52471186 [GRCh38]
Chr12:52864970 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.183_184insCTTA (p.Tyr62fs) insertion not provided [RCV002211226] Chr12:52473554..52473555 [GRCh38]
Chr12:52867338..52867339 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1509C>T (p.Val503=) single nucleotide variant not provided [RCV002214661] Chr12:52469248 [GRCh38]
Chr12:52863032 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1567A>G (p.Ile523Val) single nucleotide variant not provided [RCV002212591] Chr12:52469190 [GRCh38]
Chr12:52862974 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.178_181del (p.Ser60fs) deletion not provided [RCV002211228] Chr12:52473557..52473560 [GRCh38]
Chr12:52867341..52867344 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.182T>A (p.Leu61Gln) single nucleotide variant not provided [RCV002211227] Chr12:52473556 [GRCh38]
Chr12:52867340 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1613G>C (p.Gly538Ala) single nucleotide variant not provided [RCV002117881] Chr12:52469144 [GRCh38]
Chr12:52862928 [GRCh37]
Chr12:12q13.13		 benign
NC_000012.11:g.(?_52862846)_(52865100_?)del deletion not provided [RCV003113828] Chr12:52862846..52865100 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.30C>G (p.Ser10Arg) single nucleotide variant not provided [RCV003120444] Chr12:52473708 [GRCh38]
Chr12:52867492 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.991G>C (p.Asp331His) single nucleotide variant Inborn genetic diseases [RCV002628473]|not provided [RCV002616800] Chr12:52471218 [GRCh38]
Chr12:52865002 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1256C>T (p.Ala419Val) single nucleotide variant Inborn genetic diseases [RCV002992577] Chr12:52469838 [GRCh38]
Chr12:52863622 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1064G>C (p.Trp355Ser) single nucleotide variant Inborn genetic diseases [RCV002777734] Chr12:52471145 [GRCh38]
Chr12:52864929 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.695G>A (p.Arg232Gln) single nucleotide variant Inborn genetic diseases [RCV002972920] Chr12:52472126 [GRCh38]
Chr12:52865910 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.155G>A (p.Gly52Glu) single nucleotide variant Inborn genetic diseases [RCV002906330] Chr12:52473583 [GRCh38]
Chr12:52867367 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1315C>G (p.Gln439Glu) single nucleotide variant Inborn genetic diseases [RCV002685040] Chr12:52469779 [GRCh38]
Chr12:52863563 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1045C>T (p.Arg349Trp) single nucleotide variant Inborn genetic diseases [RCV003167718]|not provided [RCV002756085] Chr12:52471164 [GRCh38]
Chr12:52864948 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1377T>C (p.Asp459=) single nucleotide variant not provided [RCV002619196] Chr12:52469717 [GRCh38]
Chr12:52863501 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1680G>A (p.Lys560=) single nucleotide variant not provided [RCV002795661] Chr12:52469077 [GRCh38]
Chr12:52862861 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1444G>A (p.Gly482Arg) single nucleotide variant Inborn genetic diseases [RCV002757105] Chr12:52469426 [GRCh38]
Chr12:52863210 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1359T>C (p.Asn453=) single nucleotide variant not provided [RCV002979759] Chr12:52469735 [GRCh38]
Chr12:52863519 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1183A>T (p.Ile395Phe) single nucleotide variant Inborn genetic diseases [RCV002887129] Chr12:52470525 [GRCh38]
Chr12:52864309 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1059G>A (p.Glu353=) single nucleotide variant not provided [RCV003001848] Chr12:52471150 [GRCh38]
Chr12:52864934 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1204-8C>T single nucleotide variant not provided [RCV002592156] Chr12:52469898 [GRCh38]
Chr12:52863682 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1604T>C (p.Ile535Thr) single nucleotide variant Inborn genetic diseases [RCV003170594]|not provided [RCV002932977] Chr12:52469153 [GRCh38]
Chr12:52862937 [GRCh37]
Chr12:12q13.13		 likely benign|uncertain significance
NM_173086.5(KRT6C):c.706G>T (p.Asp236Tyr) single nucleotide variant Inborn genetic diseases [RCV002744742] Chr12:52472115 [GRCh38]
Chr12:52865899 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.364T>C (p.Phe122Leu) single nucleotide variant Inborn genetic diseases [RCV002987537] Chr12:52473374 [GRCh38]
Chr12:52867158 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.47G>A (p.Arg16Gln) single nucleotide variant Inborn genetic diseases [RCV002699972] Chr12:52473691 [GRCh38]
Chr12:52867475 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.61A>G (p.Asn21Asp) single nucleotide variant Inborn genetic diseases [RCV003003390] Chr12:52473677 [GRCh38]
Chr12:52867461 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.977G>A (p.Arg326His) single nucleotide variant not provided [RCV002958611] Chr12:52471232 [GRCh38]
Chr12:52865016 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1435G>A (p.Glu479Lys) single nucleotide variant Inborn genetic diseases [RCV003008579]|not provided [RCV003561151] Chr12:52469435 [GRCh38]
Chr12:52863219 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1157G>A (p.Arg386His) single nucleotide variant not provided [RCV002900422] Chr12:52470551 [GRCh38]
Chr12:52864335 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1116C>T (p.Asp372=) single nucleotide variant not provided [RCV003086172] Chr12:52470592 [GRCh38]
Chr12:52864376 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.244G>A (p.Gly82Ser) single nucleotide variant Inborn genetic diseases [RCV002769411] Chr12:52473494 [GRCh38]
Chr12:52867278 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.971A>T (p.Asn324Ile) single nucleotide variant Inborn genetic diseases [RCV002961721] Chr12:52471238 [GRCh38]
Chr12:52865022 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1041G>A (p.Arg347=) single nucleotide variant not provided [RCV003090808] Chr12:52471168 [GRCh38]
Chr12:52864952 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1244G>A (p.Arg415His) single nucleotide variant Inborn genetic diseases [RCV002900688] Chr12:52469850 [GRCh38]
Chr12:52863634 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.376G>A (p.Gly126Ser) single nucleotide variant Inborn genetic diseases [RCV002936108] Chr12:52473362 [GRCh38]
Chr12:52867146 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1510G>A (p.Gly504Ser) single nucleotide variant not provided [RCV003051341] Chr12:52469247 [GRCh38]
Chr12:52863031 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.986A>C (p.Asp329Ala) single nucleotide variant not provided [RCV003052754] Chr12:52471223 [GRCh38]
Chr12:52865007 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.959T>C (p.Leu320Pro) single nucleotide variant Inborn genetic diseases [RCV003208462] Chr12:52471250 [GRCh38]
Chr12:52865034 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.298T>G (p.Phe100Val) single nucleotide variant Inborn genetic diseases [RCV003191563] Chr12:52473440 [GRCh38]
Chr12:52867224 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.169G>C (p.Gly57Arg) single nucleotide variant not provided [RCV003159406] Chr12:52473569 [GRCh38]
Chr12:52867353 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1426C>G (p.Leu476Val) single nucleotide variant Inborn genetic diseases [RCV003207061] Chr12:52469444 [GRCh38]
Chr12:52863228 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1243C>T (p.Arg415Cys) single nucleotide variant Inborn genetic diseases [RCV003386157] Chr12:52469851 [GRCh38]
Chr12:52863635 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.995G>A (p.Ser332Asn) single nucleotide variant Inborn genetic diseases [RCV003383107] Chr12:52471214 [GRCh38]
Chr12:52864998 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.477G>A (p.Val159=) single nucleotide variant not provided [RCV003391842] Chr12:52473261 [GRCh38]
Chr12:52867045 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.459C>T (p.Asp153=) single nucleotide variant not provided [RCV003391843] Chr12:52473279 [GRCh38]
Chr12:52867063 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.251G>A (p.Gly84Asp) single nucleotide variant not provided [RCV003391844] Chr12:52473487 [GRCh38]
Chr12:52867271 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.183G>T (p.Leu61=) single nucleotide variant not provided [RCV003391845] Chr12:52473555 [GRCh38]
Chr12:52867339 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.702C>T (p.Arg234=) single nucleotide variant not provided [RCV003390242] Chr12:52472119 [GRCh38]
Chr12:52865903 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.294T>C (p.Ser98=) single nucleotide variant not provided [RCV003390243] Chr12:52473444 [GRCh38]
Chr12:52867228 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1455C>T (p.Asn485=) single nucleotide variant not provided [RCV003543844] Chr12:52469415 [GRCh38]
Chr12:52863199 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1460-6C>T single nucleotide variant not provided [RCV003575474] Chr12:52469303 [GRCh38]
Chr12:52863087 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1632C>T (p.Gly544=) single nucleotide variant not provided [RCV003717294] Chr12:52469125 [GRCh38]
Chr12:52862909 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1294G>T (p.Asp432Tyr) single nucleotide variant Inborn genetic diseases [RCV004414434] Chr12:52469800 [GRCh38]
Chr12:52863584 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1511G>A (p.Gly504Asp) single nucleotide variant not provided [RCV003839300] Chr12:52469246 [GRCh38]
Chr12:52863030 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1109A>G (p.His370Arg) single nucleotide variant Inborn genetic diseases [RCV004414432] Chr12:52470599 [GRCh38]
Chr12:52864383 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1460-15C>T single nucleotide variant not provided [RCV003669566] Chr12:52469312 [GRCh38]
Chr12:52863096 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.301G>A (p.Gly101Ser) single nucleotide variant Inborn genetic diseases [RCV004414436] Chr12:52473437 [GRCh38]
Chr12:52867221 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1077+12G>A single nucleotide variant not provided [RCV003549154] Chr12:52471120 [GRCh38]
Chr12:52864904 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1456G>A (p.Val486Ile) single nucleotide variant not provided [RCV003549765] Chr12:52469414 [GRCh38]
Chr12:52863198 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.1630G>A (p.Gly544Ser) single nucleotide variant KRT6C-related disorder [RCV003954266]|not provided [RCV003556544] Chr12:52469127 [GRCh38]
Chr12:52862911 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_173086.5(KRT6C):c.1396C>T (p.Arg466Cys) single nucleotide variant not provided [RCV003731465] Chr12:52469698 [GRCh38]
Chr12:52863482 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1573G>A (p.Gly525Ser) single nucleotide variant not provided [RCV003868100] Chr12:52469184 [GRCh38]
Chr12:52862968 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1116C>G (p.Asp372Glu) single nucleotide variant not provided [RCV003840799] Chr12:52470592 [GRCh38]
Chr12:52864376 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1434C>T (p.Gly478=) single nucleotide variant KRT6C-related disorder [RCV003929243]|not provided [RCV003556786] Chr12:52469436 [GRCh38]
Chr12:52863220 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_173086.5(KRT6C):c.1328G>A (p.Arg443Gln) single nucleotide variant not provided [RCV003568447] Chr12:52469766 [GRCh38]
Chr12:52863550 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.660C>A (p.Asn220Lys) single nucleotide variant not provided [RCV003884010] Chr12:52472161 [GRCh38]
Chr12:52865945 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.318C>A (p.Ala106=) single nucleotide variant KRT6C-related disorder [RCV003951594] Chr12:52473420 [GRCh38]
Chr12:52867204 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1156C>T (p.Arg386Cys) single nucleotide variant Inborn genetic diseases [RCV004414433] Chr12:52470552 [GRCh38]
Chr12:52864336 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.147T>C (p.Gly49=) single nucleotide variant KRT6C-related disorder [RCV003981928] Chr12:52473591 [GRCh38]
Chr12:52867375 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.307G>A (p.Gly103Ser) single nucleotide variant not provided [RCV003992969] Chr12:52473431 [GRCh38]
Chr12:52867215 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.1020A>T (p.Gln340His) single nucleotide variant Inborn genetic diseases [RCV004414431] Chr12:52471189 [GRCh38]
Chr12:52864973 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1360G>A (p.Val454Ile) single nucleotide variant Inborn genetic diseases [RCV004414435] Chr12:52469734 [GRCh38]
Chr12:52863518 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.854A>G (p.Gln285Arg) single nucleotide variant Inborn genetic diseases [RCV004414438] Chr12:52471479 [GRCh38]
Chr12:52865263 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.680G>A (p.Ser227Asn) single nucleotide variant KRT6C-related disorder [RCV003979361] Chr12:52472141 [GRCh38]
Chr12:52865925 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.262G>A (p.Gly88Arg) single nucleotide variant KRT6C-related disorder [RCV003984556] Chr12:52473476 [GRCh38]
Chr12:52867260 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.157G>A (p.Gly53Arg) single nucleotide variant not provided [RCV003885191] Chr12:52473581 [GRCh38]
Chr12:52867365 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.960A>G (p.Leu320=) single nucleotide variant KRT6C-related disorder [RCV003926977] Chr12:52471249 [GRCh38]
Chr12:52865033 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.541-6T>C single nucleotide variant KRT6C-related disorder [RCV003931452] Chr12:52472286 [GRCh38]
Chr12:52866070 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.118C>T (p.Arg40Cys) single nucleotide variant KRT6C-related disorder [RCV003923950] Chr12:52473620 [GRCh38]
Chr12:52867404 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.332G>A (p.Gly111Asp) single nucleotide variant KRT6C-related disorder [RCV003979823] Chr12:52473406 [GRCh38]
Chr12:52867190 [GRCh37]
Chr12:12q13.13		 benign
NM_173086.5(KRT6C):c.46C>T (p.Arg16Trp) single nucleotide variant Inborn genetic diseases [RCV004414437] Chr12:52473692 [GRCh38]
Chr12:52867476 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1512C>T (p.Gly504=) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557763] Chr12:52469245 [GRCh38]
Chr12:52863029 [GRCh37]
Chr12:12q13.13		 likely benign
NM_173086.5(KRT6C):c.778C>T (p.Arg260Cys) single nucleotide variant Inborn genetic diseases [RCV004644548] Chr12:52471710 [GRCh38]
Chr12:52865494 [GRCh37]
Chr12:12q13.13		 uncertain significance
NC_000012.11:g.(?_52863175)_(52863694_?)del deletion not provided [RCV004580032] Chr12:52863175..52863694 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1252A>G (p.Met418Val) single nucleotide variant Inborn genetic diseases [RCV004644549] Chr12:52469842 [GRCh38]
Chr12:52863626 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.286G>C (p.Ala96Pro) single nucleotide variant Inborn genetic diseases [RCV004644550] Chr12:52473452 [GRCh38]
Chr12:52867236 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_173086.5(KRT6C):c.1024G>A (p.Glu342Lys) single nucleotide variant Inborn genetic diseases [RCV004633725] Chr12:52471185 [GRCh38]
Chr12:52864969 [GRCh37]
Chr12:12q13.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:560
Count of miRNA genes:435
Interacting mature miRNAs:470
Transcripts:ENST00000252250, ENST00000553087
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407186646GWAS835622_Hsphingomyelin measurement QTL GWAS835622 (human)3e-09sphingomyelin measurement125247080452470805Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
826 1861 1954 1450 3311 1246 1556 2 452 831 292 1748 4274 4037 3 2117 493 1412 1029 172

Sequence


Ensembl Acc Id: ENST00000252250   ⟹   ENSP00000252250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,468,516 - 52,473,805 (-)Ensembl
Ensembl Acc Id: ENST00000553087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1252,470,022 - 52,471,433 (-)Ensembl
RefSeq Acc Id: NM_173086   ⟹   NP_775109
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,468,516 - 52,473,805 (-)NCBI
GRCh371252,862,300 - 52,867,569 (-)RGD
Build 361251,148,567 - 51,153,836 (-)NCBI Archive
Celera1252,508,540 - 52,513,809 (-)RGD
HuRef1249,906,198 - 49,911,468 (-)RGD
CHM1_11252,829,152 - 52,834,426 (-)NCBI
T2T-CHM13v2.01252,433,115 - 52,438,404 (-)NCBI
Sequence:
RefSeq Acc Id: NP_775109   ⟸   NM_173086
- UniProtKB: Q2TAZ9 (UniProtKB/Swiss-Prot),   P48666 (UniProtKB/Swiss-Prot),   A1L4L5 (UniProtKB/Swiss-Prot),   Q7RTN9 (UniProtKB/Swiss-Prot),   P48668 (UniProtKB/Swiss-Prot),   B2R853 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000252250   ⟸   ENST00000252250
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48668-F1-model_v2 AlphaFold P48668 1-564 view protein structure

Promoters
RGD ID:7224013
Promoter ID:EPDNEW_H17752
Type:multiple initiation site
Name:KRT6C_1
Description:keratin 6C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17765  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381252,473,805 - 52,473,865EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20406 AgrOrtholog
COSMIC KRT6C COSMIC
Ensembl Genes ENSG00000170465 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252250 ENTREZGENE
  ENST00000252250.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170465 GTEx
HGNC ID HGNC:20406 ENTREZGENE
Human Proteome Map KRT6C Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_2_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:286887 UniProtKB/Swiss-Prot
NCBI Gene 286887 ENTREZGENE
OMIM 612315 OMIM
PANTHER GATA-TYPE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KERATIN, TYPE II CYTOSKELETAL 6C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_2_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134891227 PharmGKB
PRINTS TYPE2KERATIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L4L5 ENTREZGENE
  B2R853 ENTREZGENE, UniProtKB/TrEMBL
  K2C6C_HUMAN UniProtKB/Swiss-Prot
  P48666 ENTREZGENE
  P48668 ENTREZGENE
  Q2TAZ9 ENTREZGENE
  Q7RTN9 ENTREZGENE
UniProt Secondary A1L4L5 UniProtKB/Swiss-Prot
  P48666 UniProtKB/Swiss-Prot
  Q2TAZ9 UniProtKB/Swiss-Prot
  Q7RTN9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT6C  keratin 6C  KRT6C  keratin 6C, type II  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT6C  keratin 6C, type II  KRT6C  keratin 6C  Symbol and/or name change 5135510 APPROVED