KRT17 (keratin 17) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: KRT17 (keratin 17) Homo sapiens
Analyze
Symbol: KRT17
Name: keratin 17
RGD ID: 1353171
HGNC Page HGNC:6427
Description: Predicted to enable structural molecule activity. Predicted to be involved in epithelial cell differentiation; hair follicle morphogenesis; and intermediate filament organization. Predicted to act upstream of or within keratinization and morphogenesis of an epithelium. Located in intermediate filament cytoskeleton. Implicated in ectodermal dysplasia; pachyonychia congenita; and steatocystoma multiplex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 39.1; CK-17; cytokeratin-17; K17; keratin 17 epitope S1; keratin 17 epitope S2; keratin 17 epitope S3; keratin 17 epitope S4; keratin 17, type I; keratin, type I cytoskeletal 17; keratin-17; PC; PC2; PCHC1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: KRT17P1   KRT17P2   KRT17P3   KRT17P4   KRT17P6   KRT17P7   KRT17P8  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,619,442 - 41,624,575 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,619,442 - 41,624,842 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,775,694 - 39,780,827 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,029,220 - 37,034,335 (-)NCBINCBI36Build 36hg18NCBI36
Build 341737,029,220 - 37,034,335NCBI
Celera1736,428,841 - 36,434,031 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1735,538,739 - 35,543,929 (-)NCBIHuRef
CHM1_11740,011,007 - 40,016,197 (-)NCBICHM1_1
T2T-CHM13v2.01742,474,895 - 42,480,028 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-bromoindirubin-3'-oxime  (EXP)
8'-apo-beta,psi-caroten-8'-al  (EXP)
9-cis-retinoic acid  (EXP)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (EXP)
amphetamine  (ISO)
antimycin A  (EXP)
aristolochic acids  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bexarotene  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (EXP)
calcipotriol  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carmustine  (EXP)
chromium trinitrate  (ISO)
cisplatin  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
DDE  (EXP)
deguelin  (EXP)
diazinon  (EXP)
diethylstilbestrol  (EXP)
dimercaprol  (ISO)
dimethylarsinic acid  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (ISO)
GW 4064  (ISO)
hydralazine  (EXP)
iron dichloride  (EXP)
isotretinoin  (EXP)
lead diacetate  (EXP)
lead(0)  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
malathion  (EXP)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
nickel sulfate  (EXP)
paracetamol  (ISO)
perfluorodecanoic acid  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
propylparaben  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium chromate  (ISO)
sulforaphane  (EXP)
sulindac sulfide  (EXP)
tamoxifen  (EXP,ISO)
testosterone  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
trametinib  (EXP)
triclosan  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
XAV939  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. McLean WH, etal., Nat Genet. 1995 Mar;9(3):273-8.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1281771   PMID:1372562   PMID:1690428   PMID:7523421   PMID:7529318   PMID:7577575   PMID:9008238   PMID:9630597   PMID:9767294   PMID:9786956   PMID:10341211   PMID:10571744  
PMID:11348474   PMID:11591653   PMID:11874497   PMID:11886499   PMID:12429849   PMID:12466114   PMID:12477932   PMID:12577067   PMID:14702039   PMID:14744259   PMID:14761598   PMID:15102078  
PMID:15342556   PMID:15489334   PMID:15795121   PMID:16189514   PMID:16638858   PMID:16831889   PMID:16964243   PMID:17192395   PMID:17388661   PMID:17719747   PMID:17786476   PMID:17906640  
PMID:18029348   PMID:18547302   PMID:18936942   PMID:19102940   PMID:19107515   PMID:19199708   PMID:19366057   PMID:19380743   PMID:19460752   PMID:19470054   PMID:19558792   PMID:19615732  
PMID:19701759   PMID:19882246   PMID:20301457   PMID:20618440   PMID:20936779   PMID:21145461   PMID:21287500   PMID:21356351   PMID:21443102   PMID:21565611   PMID:21796151   PMID:21873635  
PMID:22006917   PMID:22076435   PMID:22235123   PMID:22264670   PMID:22336949   PMID:22466643   PMID:22639854   PMID:22695933   PMID:22795618   PMID:22808266   PMID:22863883   PMID:22939629  
PMID:23278621   PMID:23414517   PMID:23430585   PMID:23455924   PMID:23686814   PMID:23855588   PMID:24043308   PMID:24051697   PMID:24168496   PMID:24247036   PMID:24335642   PMID:24471966  
PMID:24705354   PMID:24711643   PMID:25111597   PMID:25324306   PMID:25416956   PMID:25713416   PMID:25736868   PMID:26109559   PMID:26165312   PMID:26168014   PMID:26191283   PMID:26217791  
PMID:26496610   PMID:26740287   PMID:26968559   PMID:27065324   PMID:27342126   PMID:27432155   PMID:27512993   PMID:27513074   PMID:27591049   PMID:27816721   PMID:27880917   PMID:28027390  
PMID:28299464   PMID:28342001   PMID:28378594   PMID:28515276   PMID:28524877   PMID:28576737   PMID:28642156   PMID:28685749   PMID:28703907   PMID:28821199   PMID:28977666   PMID:29218738  
PMID:29349514   PMID:29507755   PMID:29563501   PMID:29666398   PMID:29845934   PMID:29859926   PMID:29991674   PMID:30021884   PMID:30066921   PMID:30209976   PMID:30224337   PMID:30413534  
PMID:30443013   PMID:30554943   PMID:30619335   PMID:30655611   PMID:30737378   PMID:30884312   PMID:30928404   PMID:31180492   PMID:31237972   PMID:31324722   PMID:31343991   PMID:31375762  
PMID:31598941   PMID:31655037   PMID:31655172   PMID:31754689   PMID:31862882   PMID:31871319   PMID:32041737   PMID:32554975   PMID:32627037   PMID:32632899   PMID:32989256   PMID:33022573  
PMID:33236603   PMID:33306668   PMID:33577073   PMID:33624385   PMID:33762306   PMID:33762435   PMID:33838681   PMID:34229948   PMID:34445801   PMID:34825085   PMID:34845376   PMID:34921015  
PMID:34935584   PMID:35013218   PMID:35031058   PMID:35122331   PMID:35256949   PMID:35474131   PMID:35554675   PMID:35568845   PMID:35575683   PMID:35639459   PMID:35676659   PMID:35681168  
PMID:35706019   PMID:35831895   PMID:35844135   PMID:35864588   PMID:35941108   PMID:35944360   PMID:36057605   PMID:36139022   PMID:36147463   PMID:36180891   PMID:36197047   PMID:36215168  
PMID:36517590   PMID:36526897   PMID:36560452   PMID:36762613   PMID:36849460   PMID:36919456   PMID:37071682   PMID:37120454   PMID:37129929   PMID:37132043   PMID:37314216   PMID:37497003  
PMID:37634232   PMID:38113892   PMID:38140561   PMID:38172120   PMID:38547608   PMID:38730319   PMID:39159283   PMID:39238192  


Genomics

Comparative Map Data
KRT17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,619,442 - 41,624,575 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1741,619,442 - 41,624,842 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,775,694 - 39,780,827 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361737,029,220 - 37,034,335 (-)NCBINCBI36Build 36hg18NCBI36
Build 341737,029,220 - 37,034,335NCBI
Celera1736,428,841 - 36,434,031 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1735,538,739 - 35,543,929 (-)NCBIHuRef
CHM1_11740,011,007 - 40,016,197 (-)NCBICHM1_1
T2T-CHM13v2.01742,474,895 - 42,480,028 (-)NCBIT2T-CHM13v2.0
Krt17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911100,147,041 - 100,151,855 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11100,147,043 - 100,151,855 (-)EnsemblGRCm39 Ensembl
GRCm3811100,256,215 - 100,261,029 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11100,256,217 - 100,261,029 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711100,117,531 - 100,122,303 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611100,072,307 - 100,077,079 (-)NCBIMGSCv36mm8
Celera11110,873,531 - 110,878,303 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1163.44NCBI
Krt17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81085,679,068 - 85,683,792 (-)NCBIGRCr8
mRatBN7.21085,178,673 - 85,183,392 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1085,178,675 - 85,183,392 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1090,219,209 - 90,223,936 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01089,695,049 - 89,699,768 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01085,086,973 - 85,091,692 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01088,158,993 - 88,163,712 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1088,118,001 - 88,163,723 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01087,952,322 - 87,957,041 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41089,185,097 - 89,189,816 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11089,199,618 - 89,204,133 (-)NCBI
Celera1083,898,003 - 83,902,722 (-)NCBICelera
Cytogenetic Map10q31NCBI
Krt17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545115,940,137 - 15,944,392 (-)NCBIChiLan1.0ChiLan1.0
LOC100976433
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21923,360,423 - 23,365,496 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11725,250,500 - 25,255,640 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01715,692,319 - 15,697,455 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11715,910,681 - 15,916,079 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1715,910,899 - 15,916,079 (+)Ensemblpanpan1.1panPan2
KRT17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1921,155,007 - 21,161,407 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl921,156,045 - 21,265,564 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha920,616,513 - 20,622,907 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0921,875,639 - 21,882,033 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1920,661,667 - 20,668,061 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0920,927,672 - 20,934,066 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0921,031,467 - 21,037,861 (+)NCBIUU_Cfam_GSD_1.0
LOC100737030
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11221,014,182 - 21,022,123 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21221,315,911 - 21,324,008 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KRT17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11664,615,194 - 64,622,931 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1664,617,219 - 64,622,971 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607735,454,552 - 35,466,907 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in KRT17
118 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_000422.3(KRT17):c.274A>G (p.Asn92Asp) single nucleotide variant Pachyonychia congenita 2 [RCV000015688]|not provided [RCV000056510] Chr17:41624236 [GRCh38]
Chr17:39780488 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) single nucleotide variant Abnormality of the skin [RCV001836709]|Pachyonychia congenita 2 [RCV000015689]|Pachyonychia congenita 2 [RCV002496373]|not provided [RCV000056512] Chr17:41624235 [GRCh38]
Chr17:39780487 [GRCh37]
Chr17:17q21.2		 pathogenic|likely pathogenic|not provided
NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp) single nucleotide variant Pachyonychia congenita 2 [RCV000015690]|not provided [RCV000056521] Chr17:41624218 [GRCh38]
Chr17:39780470 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.274A>C (p.Asn92His) single nucleotide variant Steatocystoma multiplex [RCV000015691]|not provided [RCV000056509] Chr17:41624236 [GRCh38]
Chr17:39780488 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.263T>C (p.Met88Thr) single nucleotide variant Pachyonychia congenita 2 [RCV000015696]|not provided [RCV000056508] Chr17:41624247 [GRCh38]
Chr17:39780499 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del) deletion Pachyonychia congenita 2 [RCV000015697]|not provided [RCV000056514] Chr17:41624215..41624229 [GRCh38]
Chr17:39780467..39780481 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.281G>C (p.Arg94Pro) single nucleotide variant Pachyonychia congenita 2 [RCV000015698]|not provided [RCV000056516] Chr17:41624229 [GRCh38]
Chr17:39780481 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.284T>A (p.Leu95Gln) single nucleotide variant Pachyonychia congenita 2 [RCV000015699]|not provided [RCV000056517] Chr17:41624226 [GRCh38]
Chr17:39780478 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) single nucleotide variant Pachyonychia congenita 2 [RCV000015700]|not provided [RCV000056518] Chr17:41624226 [GRCh38]
Chr17:39780478 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.2(KRT17):c.289_291delTCC (p.Ser97del) deletion Pachyonychia congenita type 2 [RCV000015701]|not provided [RCV000056520] Chr17:41624219..41624221 [GRCh38]
Chr17:39780471..39780473 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.296T>C (p.Leu99Pro) single nucleotide variant Pachyonychia congenita 2 [RCV000015702]|not provided [RCV000056523] Chr17:41624214 [GRCh38]
Chr17:39780466 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.304G>A (p.Val102Met) single nucleotide variant Pachyonychia congenita 2 [RCV000015703]|not provided [RCV000056524] Chr17:41624206 [GRCh38]
Chr17:39780458 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
NM_000422.3(KRT17):c.281G>A (p.Arg94His) single nucleotide variant Pachyonychia congenita 2 [RCV000114414]|Pachyonychia congenita 2 [RCV002496374]|Steatocystoma multiplex [RCV000015692]|not provided [RCV000056515] Chr17:41624229 [GRCh38]
Chr17:39780481 [GRCh37]
Chr17:17q21.2		 pathogenic|likely pathogenic|not provided
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) single nucleotide variant Pachyonychia congenita 2 [RCV000114415]|Steatocystoma multiplex [RCV000015694]|not provided [RCV000056513] Chr17:41624230 [GRCh38]
Chr17:39780482 [GRCh37]
Chr17:17q21.2		 pathogenic|conflicting interpretations of pathogenicity|not provided
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
NM_000422.2(KRT17):c.439A>C (p.Thr147Pro) single nucleotide variant Malignant melanoma [RCV000071483] Chr17:41623026 [GRCh38]
Chr17:39779278 [GRCh37]
Chr17:37032804 [NCBI36]
Chr17:17q21.2		 not provided
NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro) single nucleotide variant not provided [RCV000056505] Chr17:41620728 [GRCh38]
Chr17:39776980 [GRCh37]
Chr17:17q21.2		 not provided
NM_000422.3(KRT17):c.1163T>C (p.Leu388Pro) single nucleotide variant not provided [RCV000056506] Chr17:41620677 [GRCh38]
Chr17:39776929 [GRCh37]
Chr17:17q21.2		 not provided
NM_000422.3(KRT17):c.263T>A (p.Met88Lys) single nucleotide variant not provided [RCV000056507] Chr17:41624247 [GRCh38]
Chr17:39780499 [GRCh37]
Chr17:17q21.2		 not provided
NM_000422.3(KRT17):c.274_297del (p.Asn92_Leu99del) deletion not provided [RCV000056511] Chr17:41624213..41624236 [GRCh38]
Chr17:39780465..39780488 [GRCh37]
Chr17:17q21.2		 not provided
NM_000422.2(KRT17):c.280_294delCGCCTGGCCTCCTAC (p.Arg94_Tyr98del) deletion not provided [RCV000056514] Chr17:41624216..41624230 [GRCh38]
Chr17:39780468..39780482 [GRCh37]
Chr17:17q21.2		 not provided
NM_000422.3(KRT17):c.287_298del (p.Ala96_Leu99del) deletion not provided [RCV000056519] Chr17:41624212..41624223 [GRCh38]
Chr17:39780464..39780475 [GRCh37]
Chr17:17q21.2		 not provided
NM_000422.3(KRT17):c.295_303del (p.Leu99_Lys101del) deletion not provided [RCV000056522] Chr17:41624207..41624215 [GRCh38]
Chr17:39780459..39780467 [GRCh37]
Chr17:17q21.2		 not provided
NM_000422.3(KRT17):c.309T>C (p.Arg103=) single nucleotide variant not provided [RCV000056525] Chr17:41624201 [GRCh38]
Chr17:39780453 [GRCh37]
Chr17:17q21.2		 not provided
NM_000422.3(KRT17):c.325A>G (p.Asn109Asp) single nucleotide variant not provided [RCV000056526] Chr17:41624185 [GRCh38]
Chr17:39780437 [GRCh37]
Chr17:17q21.2		 pathogenic|not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del) microsatellite Pachyonychia congenita 2 [RCV000015701]|Pachyonychia congenita 2 [RCV002494801]|not provided [RCV000255904] Chr17:41624218..41624220 [GRCh38]
Chr17:39780470..39780472 [GRCh37]
Chr17:17q21.2		 pathogenic|likely pathogenic
NM_000422.3(KRT17):c.-6G>C single nucleotide variant KRT17-related disorder [RCV003970136]|not provided [RCV004709990]|not specified [RCV000433488] Chr17:41624515 [GRCh38]
Chr17:39780767 [GRCh37]
Chr17:17q21.2		 benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000422.3(KRT17):c.960+5G>A single nucleotide variant Anonychia [RCV000626685] Chr17:41620961 [GRCh38]
Chr17:39777213 [GRCh37]
Chr17:17q21.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000422.3(KRT17):c.99C>T (p.Gly33=) single nucleotide variant KRT17-related disorder [RCV003972973]|not provided [RCV000976543] Chr17:41624411 [GRCh38]
Chr17:39780663 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000422.3(KRT17):c.515+42C>G single nucleotide variant not provided [RCV001681141] Chr17:41622908 [GRCh38]
Chr17:39779160 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.138C>T (p.Gly46=) single nucleotide variant not provided [RCV000893835] Chr17:41624372 [GRCh38]
Chr17:39780624 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.16C>T (p.Arg6Cys) single nucleotide variant not provided [RCV000961490] Chr17:41624494 [GRCh38]
Chr17:39780746 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.508C>T (p.Arg170Cys) single nucleotide variant not provided [RCV000966029] Chr17:41622957 [GRCh38]
Chr17:39779209 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.48C>G (p.Gly16=) single nucleotide variant not provided [RCV000901164] Chr17:41624462 [GRCh38]
Chr17:39780714 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.1271G>A (p.Arg424His) single nucleotide variant not provided [RCV000903034] Chr17:41619622 [GRCh38]
Chr17:39775874 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.379C>T (p.Pro127Ser) single nucleotide variant not provided [RCV000996533] Chr17:41624131 [GRCh38]
Chr17:39780383 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.666C>T (p.His222=) single nucleotide variant not provided [RCV000884893] Chr17:41622361 [GRCh38]
Chr17:39778613 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.784A>T (p.Lys262Ter) single nucleotide variant not provided [RCV000977423] Chr17:41621643 [GRCh38]
Chr17:39777895 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.762C>T (p.Asn254=) single nucleotide variant not provided [RCV000896201] Chr17:41621665 [GRCh38]
Chr17:39777917 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.606C>T (p.Ala202=) single nucleotide variant not provided [RCV000901851] Chr17:41622421 [GRCh38]
Chr17:39778673 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.447C>G (p.Thr149=) single nucleotide variant not provided [RCV000976649] Chr17:41623018 [GRCh38]
Chr17:39779270 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.903G>A (p.Ser301=) single nucleotide variant not provided [RCV000892679] Chr17:41621023 [GRCh38]
Chr17:39777275 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.319G>A (p.Glu107Lys) single nucleotide variant not provided [RCV000885318] Chr17:41624191 [GRCh38]
Chr17:39780443 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.834+5G>A single nucleotide variant KRT17-related disorder [RCV004758102]|Pachyonychia congenita 2 [RCV002502946]|not provided [RCV000953041] Chr17:41621588 [GRCh38]
Chr17:39777840 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000422.3(KRT17):c.667G>A (p.Glu223Lys) single nucleotide variant KRT17-related disorder [RCV004731065]|not provided [RCV000947822] Chr17:41622360 [GRCh38]
Chr17:39778612 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.568C>T (p.Leu190=) single nucleotide variant KRT17-related disorder [RCV004758066]|not provided [RCV000885748] Chr17:41622459 [GRCh38]
Chr17:39778711 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.1239A>G (p.Glu413=) single nucleotide variant not provided [RCV000982406] Chr17:41619654 [GRCh38]
Chr17:39775906 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.472C>T (p.Gln158Ter) single nucleotide variant Pachyonychia congenita 2 [RCV001292827] Chr17:41622993 [GRCh38]
Chr17:39779245 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000422.3(KRT17):c.1204+1G>A single nucleotide variant Pachyonychia congenita 2 [RCV001333429] Chr17:41620535 [GRCh38]
Chr17:39776787 [GRCh37]
Chr17:17q21.2		 pathogenic
NM_000422.3(KRT17):c.179G>C (p.Cys60Ser) single nucleotide variant not provided [RCV001470161] Chr17:41624331 [GRCh38]
Chr17:39780583 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.1126C>T (p.Arg376Trp) single nucleotide variant not provided [RCV001409486] Chr17:41620714 [GRCh38]
Chr17:39776966 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.-42T>C single nucleotide variant not provided [RCV001650166] Chr17:41624551 [GRCh38]
Chr17:39780803 [GRCh37]
Chr17:17q21.2		 benign
NC_000017.10:g.(?_39780310)_(39780761_?)del deletion not provided [RCV002024843] Chr17:39780310..39780761 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.373C>A (p.Pro125Thr) single nucleotide variant not provided [RCV001924658] Chr17:41624137 [GRCh38]
Chr17:39780389 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.300C>A (p.Asp100Glu) single nucleotide variant not provided [RCV001974693] Chr17:41624210 [GRCh38]
Chr17:39780462 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.374C>G (p.Pro125Arg) single nucleotide variant not provided [RCV002046264] Chr17:41624136 [GRCh38]
Chr17:39780388 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.1270C>T (p.Arg424Cys) single nucleotide variant not provided [RCV001979396] Chr17:41619623 [GRCh38]
Chr17:39775875 [GRCh37]
Chr17:17q21.2		 likely benign|uncertain significance
NM_000422.3(KRT17):c.1045G>A (p.Val349Met) single nucleotide variant not provided [RCV002086116] Chr17:41620795 [GRCh38]
Chr17:39777047 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.1275G>A (p.Glu425=) single nucleotide variant not provided [RCV002132027] Chr17:41619618 [GRCh38]
Chr17:39775870 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.1182-8dup duplication not provided [RCV002077576] Chr17:41620565..41620566 [GRCh38]
Chr17:39776817..39776818 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.10T>A (p.Ser4Thr) single nucleotide variant KRT17-related disorder [RCV004731231]|not provided [RCV002090650] Chr17:41624500 [GRCh38]
Chr17:39780752 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.751C>T (p.Arg251Cys) single nucleotide variant Inborn genetic diseases [RCV002561567]|not provided [RCV002194704] Chr17:41621676 [GRCh38]
Chr17:39777928 [GRCh37]
Chr17:17q21.2		 likely benign|uncertain significance
NM_000422.3(KRT17):c.1205-19_1205-18delinsGC indel not provided [RCV002125352] Chr17:41619706..41619707 [GRCh38]
Chr17:39775958..39775959 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.993A>G (p.Thr331=) single nucleotide variant not provided [RCV002162556] Chr17:41620847 [GRCh38]
Chr17:39777099 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.1182-8del deletion not provided [RCV002100193] Chr17:41620566 [GRCh38]
Chr17:39776818 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.689G>A (p.Arg230Gln) single nucleotide variant not provided [RCV003114807] Chr17:41621738 [GRCh38]
Chr17:39777990 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.242_243delinsTC (p.Ala81Val) indel not provided [RCV003327805] Chr17:41624267..41624268 [GRCh38]
Chr17:39780519..39780520 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.1101C>A (p.Tyr367Ter) single nucleotide variant not provided [RCV002276047] Chr17:41620739 [GRCh38]
Chr17:39776991 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.140G>C (p.Gly47Ala) single nucleotide variant not provided [RCV002302193] Chr17:41624370 [GRCh38]
Chr17:39780622 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.433-20C>T single nucleotide variant not provided [RCV002881123] Chr17:41623052 [GRCh38]
Chr17:39779304 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.813C>T (p.Ala271=) single nucleotide variant not provided [RCV002800118] Chr17:41621614 [GRCh38]
Chr17:39777866 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.835-8G>C single nucleotide variant not provided [RCV002620589] Chr17:41621099 [GRCh38]
Chr17:39777351 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.488G>A (p.Arg163His) single nucleotide variant not provided [RCV002695814] Chr17:41622977 [GRCh38]
Chr17:39779229 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.67G>A (p.Gly23Ser) single nucleotide variant not provided [RCV003079118] Chr17:41624443 [GRCh38]
Chr17:39780695 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.213C>A (p.Ser71Arg) single nucleotide variant Inborn genetic diseases [RCV002980651] Chr17:41624297 [GRCh38]
Chr17:39780549 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.1157G>A (p.Arg386His) single nucleotide variant not provided [RCV002796507] Chr17:41620683 [GRCh38]
Chr17:39776935 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.850C>T (p.Arg284Cys) single nucleotide variant not provided [RCV002785392] Chr17:41621076 [GRCh38]
Chr17:39777328 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.744C>G (p.Asp248Glu) single nucleotide variant not provided [RCV002658988] Chr17:41621683 [GRCh38]
Chr17:39777935 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.203G>A (p.Gly68Asp) single nucleotide variant not provided [RCV002667441] Chr17:41624307 [GRCh38]
Chr17:39780559 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.1271G>T (p.Arg424Leu) single nucleotide variant not provided [RCV002597173] Chr17:41619622 [GRCh38]
Chr17:39775874 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.18C>T (p.Arg6=) single nucleotide variant not provided [RCV002928848] Chr17:41624492 [GRCh38]
Chr17:39780744 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.964G>A (p.Ala322Thr) single nucleotide variant not provided [RCV002929113] Chr17:41620876 [GRCh38]
Chr17:39777128 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.672+5G>A single nucleotide variant KRT17-related disorder [RCV003971340]|not provided [RCV002594920] Chr17:41622350 [GRCh38]
Chr17:39778602 [GRCh37]
Chr17:17q21.2		 likely benign|uncertain significance
NM_000422.3(KRT17):c.516-6C>T single nucleotide variant not provided [RCV003082688] Chr17:41622517 [GRCh38]
Chr17:39778769 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.673-7T>C single nucleotide variant KRT17-related disorder [RCV003903756]|not provided [RCV002701393] Chr17:41621761 [GRCh38]
Chr17:39778013 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.44A>G (p.Lys15Arg) single nucleotide variant Inborn genetic diseases [RCV002831641] Chr17:41624466 [GRCh38]
Chr17:39780718 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.940C>G (p.Leu314Val) single nucleotide variant not provided [RCV003031940] Chr17:41620986 [GRCh38]
Chr17:39777238 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.89G>A (p.Arg30Gln) single nucleotide variant not provided [RCV002966704] Chr17:41624421 [GRCh38]
Chr17:39780673 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.1193A>G (p.Tyr398Cys) single nucleotide variant Inborn genetic diseases [RCV002941008] Chr17:41620547 [GRCh38]
Chr17:39776799 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.770G>A (p.Arg257His) single nucleotide variant Inborn genetic diseases [RCV002672939] Chr17:41621657 [GRCh38]
Chr17:39777909 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.515+19C>T single nucleotide variant not provided [RCV002580644] Chr17:41622931 [GRCh38]
Chr17:39779183 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.834+3G>A single nucleotide variant not provided [RCV002900391] Chr17:41621590 [GRCh38]
Chr17:39777842 [GRCh37]
Chr17:17q21.2		 benign|uncertain significance
NM_000422.3(KRT17):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV002580486] Chr17:41624508 [GRCh38]
Chr17:39780760 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.814G>A (p.Glu272Lys) single nucleotide variant not provided [RCV003086715] Chr17:41621613 [GRCh38]
Chr17:39777865 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.54C>T (p.Ser18=) single nucleotide variant not provided [RCV002942611] Chr17:41624456 [GRCh38]
Chr17:39780708 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.852C>T (p.Arg284=) single nucleotide variant not provided [RCV003067501] Chr17:41621074 [GRCh38]
Chr17:39777326 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.62G>A (p.Gly21Glu) single nucleotide variant Inborn genetic diseases [RCV003201465] Chr17:41624448 [GRCh38]
Chr17:39780700 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.1061C>A (p.Ala354Asp) single nucleotide variant Inborn genetic diseases [RCV003300576] Chr17:41620779 [GRCh38]
Chr17:39777031 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.89G>C (p.Arg30Pro) single nucleotide variant not provided [RCV003222912] Chr17:41624421 [GRCh38]
Chr17:39780673 [GRCh37]
Chr17:17q21.2		 benign|likely benign
NM_000422.3(KRT17):c.1216C>T (p.Arg406Cys) single nucleotide variant not provided [RCV003830446] Chr17:41619677 [GRCh38]
Chr17:39775929 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.184A>T (p.Ser62Cys) single nucleotide variant not provided [RCV003878540] Chr17:41624326 [GRCh38]
Chr17:39780578 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.157G>C (p.Gly53Arg) single nucleotide variant not provided [RCV003878541] Chr17:41624353 [GRCh38]
Chr17:39780605 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.150_151inv (p.Thr51Ala) inversion not provided [RCV003878542] Chr17:41624359..41624360 [GRCh38]
Chr17:39780611..39780612 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.225T>C (p.Gly75=) single nucleotide variant not provided [RCV003573633] Chr17:41624285 [GRCh38]
Chr17:39780537 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.851G>T (p.Arg284Leu) single nucleotide variant not provided [RCV003717151] Chr17:41621075 [GRCh38]
Chr17:39777327 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.803G>T (p.Arg268Leu) single nucleotide variant not provided [RCV003817616] Chr17:41621624 [GRCh38]
Chr17:39777876 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.171C>T (p.Tyr57=) single nucleotide variant not provided [RCV003726356] Chr17:41624339 [GRCh38]
Chr17:39780591 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.1204C>T (p.Pro402Ser) single nucleotide variant not provided [RCV003701531] Chr17:41620536 [GRCh38]
Chr17:39776788 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.1127G>A (p.Arg376Gln) single nucleotide variant not provided [RCV003558926] Chr17:41620713 [GRCh38]
Chr17:39776965 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.349C>T (p.Arg117Cys) single nucleotide variant not provided [RCV003724950] Chr17:41624161 [GRCh38]
Chr17:39780413 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.1274A>G (p.Glu425Gly) single nucleotide variant not provided [RCV003554403] Chr17:41619619 [GRCh38]
Chr17:39775871 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.244G>A (p.Gly82Arg) single nucleotide variant not provided [RCV003863430] Chr17:41624266 [GRCh38]
Chr17:39780518 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.125T>C (p.Leu42Pro) single nucleotide variant not provided [RCV003734048] Chr17:41624385 [GRCh38]
Chr17:39780637 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.410C>T (p.Thr137Ile) single nucleotide variant not provided [RCV003846323] Chr17:41624100 [GRCh38]
Chr17:39780352 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.414T>C (p.Ile138=) single nucleotide variant not provided [RCV003846322] Chr17:41624096 [GRCh38]
Chr17:39780348 [GRCh37]
Chr17:17q21.2		 likely benign
GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3 copy number gain not specified [RCV003987235] Chr17:39705863..40358580 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.681C>T (p.Asn227=) single nucleotide variant not provided [RCV003557029] Chr17:41621746 [GRCh38]
Chr17:39777998 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.1226G>T (p.Arg409Leu) single nucleotide variant not provided [RCV003675961] Chr17:41619667 [GRCh38]
Chr17:39775919 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.744C>A (p.Asp248Glu) single nucleotide variant not provided [RCV003542917] Chr17:41621683 [GRCh38]
Chr17:39777935 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.157G>A (p.Gly53Arg) single nucleotide variant not provided [RCV003731285] Chr17:41624353 [GRCh38]
Chr17:39780605 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.834+3G>C single nucleotide variant not provided [RCV003551950] Chr17:41621590 [GRCh38]
Chr17:39777842 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.9C>T (p.Thr3=) single nucleotide variant not provided [RCV003728567] Chr17:41624501 [GRCh38]
Chr17:39780753 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.-9G>A single nucleotide variant KRT17-related disorder [RCV003909810] Chr17:41624518 [GRCh38]
Chr17:39780770 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.-5C>T single nucleotide variant KRT17-related disorder [RCV003917097] Chr17:41624514 [GRCh38]
Chr17:39780766 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.108T>C (p.Gly36=) single nucleotide variant KRT17-related disorder [RCV003963821] Chr17:41624402 [GRCh38]
Chr17:39780654 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.729T>G (p.Ala243=) single nucleotide variant KRT17-related disorder [RCV003947189] Chr17:41621698 [GRCh38]
Chr17:39777950 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.1182-9_1182-8dup duplication KRT17-related disorder [RCV003916912] Chr17:41620565..41620566 [GRCh38]
Chr17:39776817..39776818 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.372C>T (p.Ala124=) single nucleotide variant KRT17-related disorder [RCV003949714] Chr17:41624138 [GRCh38]
Chr17:39780390 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.-10C>T single nucleotide variant KRT17-related disorder [RCV003972022] Chr17:41624519 [GRCh38]
Chr17:39780771 [GRCh37]
Chr17:17q21.2		 benign
NM_000422.3(KRT17):c.875T>C (p.Leu292Pro) single nucleotide variant Inborn genetic diseases [RCV004412207] Chr17:41621051 [GRCh38]
Chr17:39777303 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.1182C>T (p.His394=) single nucleotide variant Inborn genetic diseases [RCV004412205] Chr17:41620558 [GRCh38]
Chr17:39776810 [GRCh37]
Chr17:17q21.2		 likely benign
NM_000422.3(KRT17):c.101G>A (p.Gly34Asp) single nucleotide variant Inborn genetic diseases [RCV004412204] Chr17:41624409 [GRCh38]
Chr17:39780661 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.706G>A (p.Glu236Lys) single nucleotide variant Inborn genetic diseases [RCV004644434] Chr17:41621721 [GRCh38]
Chr17:39777973 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.639G>T (p.Glu213Asp) single nucleotide variant Inborn genetic diseases [RCV004644433] Chr17:41622388 [GRCh38]
Chr17:39778640 [GRCh37]
Chr17:17q21.2		 uncertain significance
NM_000422.3(KRT17):c.623T>C (p.Ile208Thr) single nucleotide variant Inborn genetic diseases [RCV004644432] Chr17:41622404 [GRCh38]
Chr17:39778656 [GRCh37]
Chr17:17q21.2		 uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1938
Count of miRNA genes:759
Interacting mature miRNAs:914
Transcripts:ENST00000311208, ENST00000463128, ENST00000491673, ENST00000493253, ENST00000577817, ENST00000590038
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
KRT17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,780,724 - 39,780,919UniSTSGRCh37
Build 361737,034,250 - 37,034,445RGDNCBI36
Celera1736,433,873 - 36,434,068RGD
HuRef1735,543,771 - 35,543,966UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1199 2404 2772 2216 4850 1585 2180 5 500 1665 340 2230 6768 6164 41 3645 1 772 1720 1570 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_009090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC130686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP226061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF608068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF608069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF608070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF608071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z19574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000311208   ⟹   ENSP00000308452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,619,442 - 41,624,575 (-)Ensembl
Ensembl Acc Id: ENST00000463128   ⟹   ENSP00000468672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,621,026 - 41,624,842 (-)Ensembl
Ensembl Acc Id: ENST00000491673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,622,873 - 41,624,575 (-)Ensembl
Ensembl Acc Id: ENST00000493253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,619,446 - 41,624,296 (-)Ensembl
Ensembl Acc Id: ENST00000540235   ⟹   ENSP00000441751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,619,443 - 41,624,541 (-)Ensembl
Ensembl Acc Id: ENST00000577817   ⟹   ENSP00000467418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,621,627 - 41,624,464 (-)Ensembl
Ensembl Acc Id: ENST00000590038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,621,662 - 41,623,268 (-)Ensembl
Ensembl Acc Id: ENST00000648859   ⟹   ENSP00000497161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,620,180 - 41,620,829 (-)Ensembl
Ensembl Acc Id: ENST00000649249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1741,619,485 - 41,621,201 (-)Ensembl
RefSeq Acc Id: NM_000422   ⟹   NP_000413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,619,442 - 41,624,575 (-)NCBI
GRCh371739,775,692 - 39,780,882 (-)ENTREZGENE
GRCh371739,775,692 - 39,780,882 (-)NCBI
Build 361737,029,220 - 37,034,335 (-)NCBI Archive
HuRef1735,538,739 - 35,543,929 (-)ENTREZGENE
CHM1_11740,011,007 - 40,016,197 (-)NCBI
T2T-CHM13v2.01742,474,895 - 42,480,028 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000413   ⟸   NM_000422
- UniProtKB: Q6IP98 (UniProtKB/Swiss-Prot),   A6NKQ2 (UniProtKB/Swiss-Prot),   A6NDV6 (UniProtKB/Swiss-Prot),   A5Z1N2 (UniProtKB/Swiss-Prot),   A5Z1N1 (UniProtKB/Swiss-Prot),   A5Z1N0 (UniProtKB/Swiss-Prot),   A5Z1M9 (UniProtKB/Swiss-Prot),   Q8N1P6 (UniProtKB/Swiss-Prot),   Q04695 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000468672   ⟸   ENST00000463128
Ensembl Acc Id: ENSP00000497161   ⟸   ENST00000648859
Ensembl Acc Id: ENSP00000308452   ⟸   ENST00000311208
Ensembl Acc Id: ENSP00000467418   ⟸   ENST00000577817
Ensembl Acc Id: ENSP00000441751   ⟸   ENST00000540235
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q04695-F1-model_v2 AlphaFold Q04695 1-432 view protein structure

Promoters
RGD ID:6794278
Promoter ID:HG_KWN:26135
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000340966,   OTTHUMT00000257460,   OTTHUMT00000257461,   OTTHUMT00000257462,   OTTHUMT00000257463
Position:
Human AssemblyChrPosition (strand)Source
Build 361737,034,041 - 37,034,541 (-)MPROMDB
RGD ID:7235003
Promoter ID:EPDNEW_H23247
Type:initiation region
Name:KRT17_1
Description:keratin 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23222  EPDNEW_H23223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,624,575 - 41,624,635EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6427 AgrOrtholog
COSMIC KRT17 COSMIC
Ensembl Genes ENSG00000128422 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311208 ENTREZGENE
  ENST00000311208.13 UniProtKB/Swiss-Prot
  ENST00000463128.5 UniProtKB/TrEMBL
  ENST00000577817.3 UniProtKB/TrEMBL
  ENST00000648859.1 UniProtKB/TrEMBL
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 ENSG00000128422 GTEx
HGNC ID HGNC:6427 ENTREZGENE
Human Proteome Map KRT17 Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3872 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3872 ENTREZGENE
OMIM 148069 OMIM
PANTHER KERATIN, TYPE I CYTOSKELETAL 17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30214 PharmGKB
PRINTS TYPE1KERATIN 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
  Prefoldin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IS58_HUMAN UniProtKB/TrEMBL
  A5Z1M9 ENTREZGENE
  A5Z1N0 ENTREZGENE
  A5Z1N1 ENTREZGENE
  A5Z1N2 ENTREZGENE
  A6NDV6 ENTREZGENE
  A6NKQ2 ENTREZGENE
  K1C17_HUMAN UniProtKB/Swiss-Prot
  K7EPJ9_HUMAN UniProtKB/TrEMBL
  K7ESE1_HUMAN UniProtKB/TrEMBL
  Q04695 ENTREZGENE
  Q14666_HUMAN UniProtKB/TrEMBL
  Q6IP98 ENTREZGENE
  Q8N1P6 ENTREZGENE
UniProt Secondary A5Z1M9 UniProtKB/Swiss-Prot
  A5Z1N0 UniProtKB/Swiss-Prot
  A5Z1N1 UniProtKB/Swiss-Prot
  A5Z1N2 UniProtKB/Swiss-Prot
  A6NDV6 UniProtKB/Swiss-Prot
  A6NKQ2 UniProtKB/Swiss-Prot
  Q6IP98 UniProtKB/Swiss-Prot
  Q8N1P6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT17  keratin 17  KRT17  keratin 17, type I  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT17  keratin 17, type I  KRT17  keratin 17  Symbol and/or name change 5135510 APPROVED