KRT14 (keratin 14) - Rat Genome Database

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Gene: KRT14 (keratin 14) Homo sapiens
Analyze
Symbol: KRT14
Name: keratin 14
RGD ID: 1316671
HGNC Page HGNC:6416
Description: Enables keratin filament binding activity. Involved in aging; hair cycle; and intermediate filament bundle assembly. Located in cytoplasm; keratin filament; and nucleus. Implicated in Naegeli-Franceschetti-Jadassohn syndrome; dermatopathia pigmentosa reticularis; and epidermolysis bullosa simplex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CK-14; CK14; cytokeratin 14; cytokeratin-14; EBS1; EBS1A; EBS1B; EBS1C; EBS1D; EBS3; EBS4; K14; keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner); keratin 14, type I; keratin, type I cytoskeletal 14; keratin-14; NFJ
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: KRT16P6   KRT17P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,582,279 - 41,586,895 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1741,582,279 - 41,586,895 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,738,531 - 39,743,147 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,992,059 - 36,996,673 (-)NCBINCBI36Build 36hg18NCBI36
Build 341736,992,058 - 36,996,673NCBI
Celera1736,391,486 - 36,396,102 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1735,501,649 - 35,506,252 (-)NCBIHuRef
CHM1_11739,973,838 - 39,978,454 (-)NCBICHM1_1
T2T-CHM13v2.01742,437,869 - 42,442,485 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-nitroanisole  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-Amino-2-nitrophenol  (ISO)
9-cis-retinoic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bexarotene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (EXP)
calcidiol  (ISO)
chlordecone  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
Disperse Blue 1  (ISO)
diuron  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
fenamic acid  (ISO)
folic acid  (EXP)
furan  (ISO)
genistein  (ISO)
graphite  (ISO)
indole-3-methanol  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lead nitrate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
melamine  (ISO)
methamphetamine  (EXP)
N,N-bis(2-hydroxypropyl)nitrosamine  (ISO)
N-butyl-N-(4-hydroxybutyl)nitrosamine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
para-Cresidine  (ISO)
paracetamol  (ISO)
pentane-2,3-dione  (EXP)
perfluorododecanoic acid  (ISO)
phenethyl isothiocyanate  (ISO)
phenobarbital  (ISO)
phenyl isocyanate  (EXP)
phenylbutazone  (ISO)
resveratrol  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulindac sulfide  (EXP)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (EXP)
trichloroethene  (ISO)
triclosan  (ISO)
troglitazone  (EXP)
uracil  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal conjunctiva morphology  (IAGP)
Abnormal epiglottis morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormality of dental morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the skin  (IAGP)
Absent toenail  (IAGP)
Acral blistering  (IAGP)
Acute episodes of neuropathic symptoms  (IAGP)
Adermatoglyphia  (IAGP)
Alopecia  (IAGP)
Alopecia of scalp  (IAGP)
Anemia  (IAGP)
Anhidrosis  (IAGP)
Aplasia cutis congenita on trunk or limbs  (IAGP)
Atrophic scars  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchomalacia  (IAGP)
Carious teeth  (IAGP)
Congenital nystagmus  (IAGP)
Congenital onset  (IAGP)
Corneal opacity  (IAGP)
Craniosynostosis  (IAGP)
Cutaneous photosensitivity  (IAGP)
Decreased circulating antibody level  (IAGP)
Decreased number of sweat glands  (IAGP)
Depigmentation/hyperpigmentation of skin  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Dry skin  (IAGP)
Dystrophic toenail  (IAGP)
Enamel hypoplasia  (IAGP)
Erosion of oral mucosa  (IAGP)
Erythema  (IAGP)
Erythematous papule  (IAGP)
Failure to thrive  (IAGP)
Focal friction-related palmoplantar hyperkeratosis  (IAGP)
Foot pain  (IAGP)
Fragile nails  (IAGP)
Fragile skin  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized reticulate brown pigmentation  (IAGP)
Genital blistering  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Heat intolerance  (IAGP)
Hoarse voice  (IAGP)
Hyperhidrosis  (IAGP)
Hyperkeratosis  (IAGP)
Hyperkeratotic papule  (IAGP)
Hypermelanotic macule  (IAGP)
Hypermetropia  (IAGP)
Hyperpigmentation in sun-exposed areas  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypoalbuminemia  (IAGP)
Hypohidrosis  (IAGP)
Hypohidrosis or hyperhidrosis  (IAGP)
Hypomelanotic macule  (IAGP)
Hypopigmentation of the skin  (IAGP)
Infantile onset  (IAGP)
Interphalangeal joint contracture of finger  (IAGP)
Lamina lucida cleavage  (IAGP)
Laryngomalacia  (IAGP)
Malalignment of the great toenail  (IAGP)
Milia  (IAGP)
Mixed hypo- and hyperpigmentation of the skin  (IAGP)
Mottled pigmentation  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Neonatal onset  (IAGP)
Nevus  (IAGP)
Onychogryposis  (IAGP)
Onycholysis  (IAGP)
Oral mucosal blisters  (IAGP)
Palmar hyperkeratosis  (IAGP)
Palmoplantar blistering  (IAGP)
Palmoplantar hyperkeratosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Papule  (IAGP)
Paresthesia  (IAGP)
Photophobia  (IAGP)
Plantar hyperkeratosis  (IAGP)
Premature loss of teeth  (IAGP)
Pruritus  (IAGP)
Punctate palmoplantar hyperkeratosis  (IAGP)
Recurrent infections  (IAGP)
Recurrent skin infections  (IAGP)
Reticular hyperpigmentation  (IAGP)
Reticulate pigmentation of oral mucosa  (IAGP)
Reticulated skin pigmentation  (IAGP)
Ridged nail  (IAGP)
Sepsis  (IAGP)
Skin erosion  (IAGP)
Skin fragility with non-scarring blistering  (IAGP)
Skin plaque  (IAGP)
Smooth tongue  (IAGP)
Spotty hyperpigmentation  (IAGP)
Spotty hypopigmentation  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Subungual hyperkeratosis  (IAGP)
Supernumerary tooth  (IAGP)
Swelling of proximal interphalangeal joints  (IAGP)
Tonofilament clumping  (IAGP)
Upper limb pain  (IAGP)
Variable expressivity  (IAGP)
Ventriculomegaly  (IAGP)
Yellow-brown discoloration of the teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Coulombe PA, etal., Cell. 1991 Sep 20;66(6):1301-11.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Transgenic rats overexpressing the human MrgX3 gene show cataracts and an abnormal skin phenotype. Kaisho Y, etal., Biochem Biophys Res Commun. 2005 May 13;330(3):653-7.
4. Modulation of gene expression in precancerous rat esophagus by dietary zinc deficit and replenishment. Liu CG, etal., Cancer Res. 2005 Sep 1;65(17):7790-9.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1713141   PMID:1720261   PMID:2442174   PMID:2451124   PMID:2580298   PMID:6186381   PMID:6210150   PMID:7506097   PMID:7506606   PMID:7525408   PMID:7526926   PMID:7526933  
PMID:7561171   PMID:7679677   PMID:7682883   PMID:7688405   PMID:8601736   PMID:8636216   PMID:8875963   PMID:9284105   PMID:9457912   PMID:9804355   PMID:9804357   PMID:9989794  
PMID:10583131   PMID:10730767   PMID:10733662   PMID:10820403   PMID:10852826   PMID:10971341   PMID:11684708   PMID:11710919   PMID:11724817   PMID:11973334   PMID:12165543   PMID:12230514  
PMID:12477932   PMID:12603865   PMID:12655565   PMID:12707098   PMID:12802069   PMID:12930305   PMID:14660619   PMID:14987259   PMID:15174051   PMID:15489334   PMID:15654986   PMID:15671067  
PMID:15717329   PMID:15731013   PMID:16098032   PMID:16344560   PMID:16757171   PMID:16786515   PMID:16831889   PMID:16882168   PMID:16960809   PMID:17039244   PMID:17159913   PMID:17373842  
PMID:17659012   PMID:17891046   PMID:18005116   PMID:18029348   PMID:18049449   PMID:18364388   PMID:18505935   PMID:18701433   PMID:18717745   PMID:18723014   PMID:19032382   PMID:19190970  
PMID:19199708   PMID:19380743   PMID:19461998   PMID:19515043   PMID:19616543   PMID:19651890   PMID:19776502   PMID:19797037   PMID:19847192   PMID:19854623   PMID:20030639   PMID:20060687  
PMID:20147963   PMID:20151404   PMID:20199538   PMID:20301543   PMID:20346438   PMID:20634891   PMID:20936779   PMID:21145461   PMID:21151833   PMID:21223690   PMID:21375516   PMID:21413954  
PMID:21565611   PMID:21593775   PMID:21623745   PMID:21630459   PMID:21734713   PMID:21873635   PMID:21900500   PMID:21916889   PMID:21988832   PMID:22277943   PMID:22363617   PMID:22577164  
PMID:22705788   PMID:22832485   PMID:22911849   PMID:22939629   PMID:23084401   PMID:23528216   PMID:23774754   PMID:24168496   PMID:24471966   PMID:24711643   PMID:24940650   PMID:24981776  
PMID:25017986   PMID:25324306   PMID:25643514   PMID:25961909   PMID:26216883   PMID:26430881   PMID:26432462   PMID:26831077   PMID:26956898   PMID:27060708   PMID:27072292   PMID:27342126  
PMID:27543926   PMID:27545878   PMID:27556695   PMID:27591049   PMID:27609421   PMID:27798626   PMID:27880917   PMID:28031328   PMID:28152077   PMID:28192407   PMID:28225793   PMID:28443643  
PMID:28515276   PMID:28561874   PMID:28630050   PMID:28685877   PMID:28721490   PMID:28777847   PMID:28888469   PMID:28977666   PMID:29024068   PMID:29478914   PMID:29507755   PMID:29563501  
PMID:29743728   PMID:29845934   PMID:29859926   PMID:30021884   PMID:30066921   PMID:30078200   PMID:30209976   PMID:30619335   PMID:30737378   PMID:30968399   PMID:31253590   PMID:31307407  
PMID:31320708   PMID:31343991   PMID:31500577   PMID:31501420   PMID:31527668   PMID:31862882   PMID:31995743   PMID:32041737   PMID:32179842   PMID:32282935   PMID:32296183   PMID:32322062  
PMID:32484238   PMID:32552912   PMID:32698014   PMID:32807901   PMID:32989256   PMID:33001583   PMID:33005030   PMID:33022573   PMID:33194618   PMID:33306668   PMID:33644029   PMID:33762435  
PMID:33869196   PMID:33961781   PMID:34445801   PMID:34509171   PMID:34650049   PMID:34709727   PMID:34830328   PMID:34962936   PMID:35008187   PMID:35013218   PMID:35031308   PMID:35562734  
PMID:35676659   PMID:35844135  


Genomics

Comparative Map Data
KRT14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381741,582,279 - 41,586,895 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1741,582,279 - 41,586,895 (-)EnsemblGRCh38hg38GRCh38
GRCh371739,738,531 - 39,743,147 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361736,992,059 - 36,996,673 (-)NCBINCBI36Build 36hg18NCBI36
Build 341736,992,058 - 36,996,673NCBI
Celera1736,391,486 - 36,396,102 (-)NCBICelera
Cytogenetic Map17q21.2NCBI
HuRef1735,501,649 - 35,506,252 (-)NCBIHuRef
CHM1_11739,973,838 - 39,978,454 (-)NCBICHM1_1
T2T-CHM13v2.01742,437,869 - 42,442,485 (-)NCBIT2T-CHM13v2.0
Krt14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911100,093,988 - 100,098,336 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11100,093,988 - 100,098,374 (-)EnsemblGRCm39 Ensembl
GRCm3811100,203,162 - 100,207,510 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11100,203,162 - 100,207,548 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711100,064,476 - 100,068,824 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611100,019,252 - 100,023,600 (-)NCBIMGSCv36mm8
Celera11110,819,617 - 110,823,965 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1163.43NCBI
Krt14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21085,137,932 - 85,141,990 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1085,066,802 - 85,171,799 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1090,155,919 - 90,159,989 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01089,654,291 - 89,658,349 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01085,046,229 - 85,050,287 (-)NCBIRnor_WKY
Rnor_6.01088,118,029 - 88,122,233 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1088,055,823 - 88,122,233 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01087,910,658 - 87,914,716 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41089,144,357 - 89,148,415 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11089,158,726 - 89,162,785 (-)NCBI
Celera1083,857,265 - 83,861,323 (-)NCBICelera
Cytogenetic Map10q31NCBI
LOC100975309
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11715,948,570 - 15,953,191 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1715,948,596 - 15,953,191 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01715,730,066 - 15,734,665 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
KRT14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1921,190,672 - 21,195,060 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl921,156,045 - 21,265,564 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha920,652,119 - 20,656,507 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0921,911,274 - 21,915,662 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1920,697,290 - 20,701,678 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0920,963,294 - 20,967,682 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0921,067,094 - 21,071,483 (+)NCBIUU_Cfam_GSD_1.0
LOC110255312
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1221,024,314 - 21,119,396 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11221,074,965 - 21,079,393 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103243443
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11664,654,988 - 64,660,327 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1664,655,807 - 64,660,319 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607735,500,284 - 35,505,086 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Position Markers
D17S934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371743,057,680 - 43,057,810UniSTSGRCh37
GRCh371743,057,680 - 43,057,853UniSTSGRCh37
Build 361740,413,206 - 40,413,379RGDNCBI36
Celera1739,768,218 - 39,768,356UniSTS
Celera1739,768,218 - 39,768,399RGD
Cytogenetic Map17q12-q21UniSTS
Cytogenetic Map17qUniSTS
HuRef1738,822,634 - 38,822,807UniSTS
HuRef1738,822,634 - 38,822,764UniSTS
Marshfield Genetic Map1763.62UniSTS
Marshfield Genetic Map1763.62RGD
Genethon Genetic Map1763.7UniSTS
TNG Radiation Hybrid Map1720550.0UniSTS
Stanford-G3 RH Map171906.0UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map17555.0UniSTS
GeneMap99-G3 RH Map172407.0UniSTS
D17S933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371733,197,167 - 33,197,358UniSTSGRCh37
GRCh371733,197,167 - 33,197,390UniSTSGRCh37
Build 361730,221,280 - 30,221,471RGDNCBI36
Celera1730,107,361 - 30,107,552RGD
Celera1730,107,361 - 30,107,584UniSTS
Cytogenetic Map17q12-q21UniSTS
HuRef1729,382,246 - 29,382,473UniSTS
HuRef1729,382,246 - 29,382,441UniSTS
Marshfield Genetic Map1757.71RGD
Genethon Genetic Map1758.3UniSTS
TNG Radiation Hybrid Map1714595.0UniSTS
deCODE Assembly Map1762.09UniSTS
GeneMap99-GB4 RH Map17293.31UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map17357.7UniSTS
GeneMap99-G3 RH Map171844.0UniSTS
D17S800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,056,423 - 39,056,594UniSTSGRCh37
GRCh371739,056,361 - 39,056,598UniSTSGRCh37
Build 361736,309,887 - 36,310,124RGDNCBI36
Celera1735,717,993 - 35,718,164UniSTS
Celera1735,717,931 - 35,718,168RGD
HuRef1734,850,720 - 34,850,959UniSTS
HuRef1734,850,782 - 34,850,955UniSTS
Marshfield Genetic Map1762.01RGD
Genethon Genetic Map1762.9UniSTS
TNG Radiation Hybrid Map1718156.0UniSTS
Stanford-G3 RH Map171555.0UniSTS
GeneMap99-GB4 RH Map17311.76UniSTS
Whitehead-RH Map17330.7UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map17488.0UniSTS
GeneMap99-G3 RH Map172056.0UniSTS
GDB:196353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,740,274 - 39,740,399UniSTSGRCh37
Build 361736,993,800 - 36,993,925RGDNCBI36
Celera1736,393,229 - 36,393,354RGD
Cytogenetic Map17q12-q21UniSTS
HuRef1735,503,393 - 35,503,504UniSTS
GDB:437754  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1736,395,475 - 36,395,868RGD
Cytogenetic Map17q12-q21UniSTS
HuRef1735,505,625 - 35,506,018UniSTS
SGC35551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,738,542 - 39,738,671UniSTSGRCh37
GRCh371716,721,308 - 16,721,440UniSTSGRCh37
Build 361716,662,033 - 16,662,165RGDNCBI36
Celera1736,391,497 - 36,391,626RGD
Cytogenetic Map17q12-q21UniSTS
Cytogenetic Map17p11.2UniSTS
HuRef1716,496,500 - 16,496,632UniSTS
HuRef1735,501,660 - 35,501,789UniSTS
GeneMap99-GB4 RH Map17305.36UniSTS
Whitehead-RH Map17338.9UniSTS
NCBI RH Map17436.5UniSTS
G16019  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map17q12-q21UniSTS
Cytogenetic Map17q21.2UniSTS
D17S800  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q12-q21UniSTS
Marshfield Genetic Map1762.01UniSTS
Genethon Genetic Map1762.9UniSTS
GeneMap99-GB4 RH Map17311.76UniSTS
Whitehead-RH Map17330.7UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map17488.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:935
Count of miRNA genes:495
Interacting mature miRNAs:543
Transcripts:ENST00000167586, ENST00000441550, ENST00000476662
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 29 1309 3 83 7 33 2 699
Medium 81 548 87 141 26 7 903 78 644 15 371 121 137 113 803
Low 1903 2060 1128 161 905 163 1807 1786 2053 88 752 1123 2 1066 1206 2
Below cutoff 358 336 288 96 336 98 143 284 867 148 189 214 1 22 76 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC019349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF186085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF186086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF186087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF186088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF186089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF186090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007186 (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
  DB018715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U11076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000167586   ⟹   ENSP00000167586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,582,279 - 41,586,895 (-)Ensembl
RefSeq Acc Id: ENST00000441550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,582,309 - 41,583,455 (-)Ensembl
RefSeq Acc Id: ENST00000476662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1741,583,249 - 41,584,471 (-)Ensembl
RefSeq Acc Id: NM_000526   ⟹   NP_000517
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,582,279 - 41,586,895 (-)NCBI
GRCh371739,738,531 - 39,743,147 (-)ENTREZGENE
Build 361736,992,059 - 36,996,673 (-)NCBI Archive
HuRef1735,501,649 - 35,506,252 (-)ENTREZGENE
CHM1_11739,973,838 - 39,978,454 (-)NCBI
T2T-CHM13v2.01742,437,869 - 42,442,485 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000517   ⟸   NM_000526
- UniProtKB: Q9UCY4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000167586   ⟸   ENST00000167586
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02533-F1-model_v2 AlphaFold P02533 1-472 view protein structure

Promoters
RGD ID:7234997
Promoter ID:EPDNEW_H23245
Type:initiation region
Name:KRT14_1
Description:keratin 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381741,586,895 - 41,586,955EPDNEW
RGD ID:6849518
Promoter ID:EP24002
Type:single initiation site
Name:HS_KRT14
Description:Keratin I 50K.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:certain epithelial cells
Experiment Methods:Nuclease protection with homologous sequence ladder
Position:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000526.5(KRT14):c.1220G>A (p.Arg407Gln) single nucleotide variant not provided [RCV000518885] Chr17:41583289 [GRCh38]
Chr17:39739541 [GRCh37]
Chr17:17q21.2
uncertain 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_000526.5(KRT14):c.1151T>C (p.Leu384Pro) single nucleotide variant Epidermolysis bullosa simplex, Koebner type [RCV000015715]|not provided [RCV000056667] Chr17:41583358 [GRCh38]
Chr17:39739610 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) single nucleotide variant Epidermolysis bullosa simplex 1A, generalized severe [RCV000015716]|Epidermolysis bullosa simplex 1A, generalized severe [RCV002243645]|Epidermolysis bullosa simplex [RCV000679886]|Epidermolysis bullosa simplex, Koebner type [RCV001807730]|not provided [RCV000056717] Chr17:41586462 [GRCh38]
Chr17:39742714 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.374G>A (p.Arg125His) single nucleotide variant Epidermolysis bullosa simplex 1A, generalized severe [RCV000015717]|not provided [RCV000056718] Chr17:41586461 [GRCh38]
Chr17:39742713 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.431A>C (p.Glu144Ala) single nucleotide variant Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015718]|not provided [RCV000056739] Chr17:41586404 [GRCh38]
Chr17:39742656 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
KRT14, 3-BP DEL, GLU375DEL deletion Epidermolysis bullosa simplex, Cockayne-Touraine type [RCV000015719] Chr17:17q12-q21 pathogenic
NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter) single nucleotide variant Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015720]|not provided [RCV000056746] Chr17:41584410 [GRCh38]
Chr17:39740662 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.815T>G (p.Met272Arg) single nucleotide variant Epidermolysis bullosa simplex, Koebner type [RCV000015721]|not provided [RCV000056753] Chr17:41583872 [GRCh38]
Chr17:39740124 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
KRT14, IVS1AS, A-C, -2 single nucleotide variant Epidermolysis bullosa simplex, autosomal recessive [RCV000015722] Chr17:17q12-q21 pathogenic
NM_000526.5(KRT14):c.356T>C (p.Met119Thr) single nucleotide variant Epidermolysis bullosa simplex 1A, generalized severe [RCV000015723]|not provided [RCV000056708] Chr17:41586479 [GRCh38]
Chr17:39742731 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.357G>A (p.Met119Ile) single nucleotide variant Epidermolysis bullosa simplex 1C, localized [RCV000015724]|not provided [RCV000056709] Chr17:41586478 [GRCh38]
Chr17:39742730 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1243T>C (p.Tyr415His) single nucleotide variant Epidermolysis bullosa simplex, Koebner type [RCV001731185]|not provided [RCV000056685] Chr17:41583266 [GRCh38]
Chr17:39739518 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln) single nucleotide variant Epidermolysis bullosa simplex 1A, generalized severe [RCV000015727]|not provided [RCV000056691] Chr17:41583253 [GRCh38]
Chr17:39739505 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1264G>A (p.Glu422Lys) single nucleotide variant Epidermolysis bullosa simplex 1C, localized [RCV001731186]|not provided [RCV000056692] Chr17:41583245 [GRCh38]
Chr17:39739497 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
KRT14, 1-BP DEL, 92T deletion Epidermolysis bullosa simplex, autosomal recessive [RCV000015729] Chr17:17q12-q21 pathogenic
KRT14, 1-BP DEL, 17G deletion Naegeli-Franceschetti-Jadassohn syndrome [RCV000015730] Chr17:17q12-q21 pathogenic
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter) single nucleotide variant Dermatopathia pigmentosa reticularis [RCV000015731]|not provided [RCV000056744] Chr17:41586781 [GRCh38]
Chr17:39743033 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
KRT14, 2-BP DEL, NT313 deletion Epidermolysis bullosa simplex, autosomal recessive [RCV000015732] Chr17:17q12-q21 pathogenic
NM_000526.5(KRT14):c.368A>G (p.Asn123Ser) single nucleotide variant Epidermolysis bullosa simplex 1A, generalized severe [RCV000015733]|not provided [RCV000056713] Chr17:41586467 [GRCh38]
Chr17:39742719 [GRCh37]
Chr17:17q21.2
pathogenic|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_000526.4(KRT14):c.1062C>T (p.Ser354=) single nucleotide variant Malignant melanoma [RCV000071480] Chr17:41583447 [GRCh38]
Chr17:39739699 [GRCh37]
Chr17:36993225 [NCBI36]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1117_1158dup (p.Ile373_Gln386dup) duplication not provided [RCV000056662] Chr17:41583350..41583351 [GRCh38]
Chr17:39739602..39739603 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1123_1125del (p.Glu375del) deletion Epidermolysis bullosa simplex 1C, localized [RCV000015719]|not provided [RCV000056663] Chr17:41583384..41583386 [GRCh38]
Chr17:39739636..39739638 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|not provided
NM_000526.5(KRT14):c.1130T>A (p.Ile377Asn) single nucleotide variant not provided [RCV000056664] Chr17:41583379 [GRCh38]
Chr17:39739631 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1130T>C (p.Ile377Thr) single nucleotide variant Epidermolysis bullosa simplex 1C, localized [RCV001777147]|not provided [RCV000056665] Chr17:41583379 [GRCh38]
Chr17:39739631 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1141G>A (p.Glu381Lys) single nucleotide variant not provided [RCV000056666] Chr17:41583368 [GRCh38]
Chr17:39739620 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1162C>G (p.Arg388Gly) single nucleotide variant not provided [RCV000056668] Chr17:41583347 [GRCh38]
Chr17:39739599 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1162C>T (p.Arg388Cys) single nucleotide variant Palmoplantar blistering [RCV000626696]|not provided [RCV000056669] Chr17:41583347 [GRCh38]
Chr17:39739599 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1163G>C (p.Arg388Pro) single nucleotide variant not provided [RCV000056670] Chr17:41583346 [GRCh38]
Chr17:39739598 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1174G>T (p.Glu392Ter) single nucleotide variant not provided [RCV000056671] Chr17:41583335 [GRCh38]
Chr17:39739587 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1186C>T (p.Gln396Ter) single nucleotide variant Epidermolysis bullosa simplex 1C, localized [RCV001823105]|not provided [RCV000056672] Chr17:41583323 [GRCh38]
Chr17:39739575 [GRCh37]
Chr17:17q21.2
likely pathogenic|not provided
NM_000526.5(KRT14):c.1202T>C (p.Leu401Pro) single nucleotide variant not provided [RCV000056673] Chr17:41583307 [GRCh38]
Chr17:39739559 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1218del (p.Arg407fs) deletion not provided [RCV000056674] Chr17:41583291 [GRCh38]
Chr17:39739543 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1222C>A (p.Leu408Met) single nucleotide variant not provided [RCV000056675] Chr17:41583287 [GRCh38]
Chr17:39739539 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1228C>T (p.Gln410Ter) single nucleotide variant not provided [RCV000056676] Chr17:41583281 [GRCh38]
Chr17:39739533 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1231G>A (p.Glu411Lys) single nucleotide variant not provided [RCV000056677] Chr17:41583278 [GRCh38]
Chr17:39739530 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter) single nucleotide variant Epidermolysis bullosa simplex, Koebner type [RCV001778695]|not provided [RCV000056678] Chr17:41583278 [GRCh38]
Chr17:39739530 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) deletion Epidermolysis bullosa simplex [RCV001352833]|not provided [RCV000056679] Chr17:41583276..41583278 [GRCh38]
Chr17:39739528..39739530 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1234A>T (p.Ile412Phe) single nucleotide variant not provided [RCV000056680] Chr17:41583275 [GRCh38]
Chr17:39739527 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1235T>A (p.Ile412Asn) single nucleotide variant not provided [RCV000056681] Chr17:41583274 [GRCh38]
Chr17:39739526 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr) single nucleotide variant not provided [RCV000056682] Chr17:41583272 [GRCh38]
Chr17:39739524 [GRCh37]
Chr17:17q21.2
benign|likely benign|not provided
NM_000526.5(KRT14):c.1237G>C (p.Ala413Pro) single nucleotide variant not provided [RCV000056683] Chr17:41583272 [GRCh38]
Chr17:39739524 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1240_1249del (p.Thr414fs) deletion not provided [RCV000056684] Chr17:41583260..41583269 [GRCh38]
Chr17:39739512..39739521 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) single nucleotide variant Epidermolysis bullosa simplex [RCV001352834]|not provided [RCV000056686] Chr17:41583265 [GRCh38]
Chr17:39739517 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1246del (p.Arg416fs) deletion Epidermolysis bullosa simplex 1A, generalized severe [RCV001778696]|not provided [RCV000056687] Chr17:41583263 [GRCh38]
Chr17:39739515 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.1247G>C (p.Arg416Pro) single nucleotide variant not provided [RCV000056688] Chr17:41583262 [GRCh38]
Chr17:39739514 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1250G>C (p.Arg417Pro) single nucleotide variant not provided [RCV000056689] Chr17:41583259 [GRCh38]
Chr17:39739511 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1252C>G (p.Leu418Val) single nucleotide variant not provided [RCV000056690] Chr17:41583257 [GRCh38]
Chr17:39739509 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.129dup (p.Ser44fs) duplication not provided [RCV000056693] Chr17:41586705..41586706 [GRCh38]
Chr17:39742957..39742958 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.1322-13A>G single nucleotide variant not provided [RCV000056694]|not specified [RCV000252903] Chr17:41582545 [GRCh38]
Chr17:39738797 [GRCh37]
Chr17:17q21.2
benign|not provided
NM_000526.5(KRT14):c.17del (p.Arg6fs) deletion Naegeli-Franceschetti-Jadassohn syndrome [RCV000015730]|not provided [RCV000056695] Chr17:41586818 [GRCh38]
Chr17:39743070 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.188= (p.Cys63=) single nucleotide variant not provided [RCV000056696] Chr17:41586647 [GRCh38]
Chr17:39742899 [GRCh37]
Chr17:17q21.2
benign|not provided
NM_000526.5(KRT14):c.189C>T (p.Cys63=) single nucleotide variant not provided [RCV000056697]|not specified [RCV000244483] Chr17:41586646 [GRCh38]
Chr17:39742898 [GRCh37]
Chr17:17q21.2
benign|not provided
NM_000526.5(KRT14):c.193C>T (p.Leu65=) single nucleotide variant not provided [RCV000056698]|not specified [RCV000249438] Chr17:41586642 [GRCh38]
Chr17:39742894 [GRCh37]
Chr17:17q21.2
benign|not provided
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) single nucleotide variant Naegeli-Franceschetti-Jadassohn syndrome [RCV000415603]|not provided [RCV000056699] Chr17:41586816 [GRCh38]
Chr17:39743068 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.231C>T (p.Ser77=) single nucleotide variant not provided [RCV000056700]|not specified [RCV000244313] Chr17:41586604 [GRCh38]
Chr17:39742856 [GRCh37]
Chr17:17q21.2
benign|not provided
NM_000526.5(KRT14):c.280G>A (p.Ala94Thr) single nucleotide variant not provided [RCV000056702]|not specified [RCV000248897] Chr17:41586555 [GRCh38]
Chr17:39742807 [GRCh37]
Chr17:17q21.2
benign|not provided
NM_000526.5(KRT14):c.313_314del (p.Ala105fs) deletion Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015732]|not provided [RCV000056703] Chr17:41586521..41586522 [GRCh38]
Chr17:39742773..39742774 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.346A>G (p.Lys116Glu) single nucleotide variant not provided [RCV000056704] Chr17:41586489 [GRCh38]
Chr17:39742741 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) single nucleotide variant Epidermolysis bullosa simplex [RCV001352789]|not provided [RCV000056705] Chr17:41586489 [GRCh38]
Chr17:39742741 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.348G>C (p.Lys116Asn) single nucleotide variant not provided [RCV000056706] Chr17:41586487 [GRCh38]
Chr17:39742739 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.355A>G (p.Met119Val) single nucleotide variant Dermatopathia pigmentosa reticularis [RCV002247454]|Epidermolysis bullosa simplex, Koebner type [RCV001778697]|not provided [RCV000056707] Chr17:41586480 [GRCh38]
Chr17:39742732 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|not provided
NM_000526.5(KRT14):c.359A>C (p.Gln120Pro) single nucleotide variant not provided [RCV000056710] Chr17:41586476 [GRCh38]
Chr17:39742728 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.359A>G (p.Gln120Arg) single nucleotide variant not provided [RCV000056711] Chr17:41586476 [GRCh38]
Chr17:39742728 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.364C>T (p.Leu122Phe) single nucleotide variant not provided [RCV000056712] Chr17:41586471 [GRCh38]
Chr17:39742723 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.369T>A (p.Asn123Lys) single nucleotide variant not provided [RCV000056714] Chr17:41586466 [GRCh38]
Chr17:39742718 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.369T>C (p.Asn123=) single nucleotide variant not provided [RCV000056715]|not specified [RCV000253846] Chr17:41586466 [GRCh38]
Chr17:39742718 [GRCh37]
Chr17:17q21.2
benign|not provided
NM_000526.5(KRT14):c.373C>G (p.Arg125Gly) single nucleotide variant not provided [RCV000056716] Chr17:41586462 [GRCh38]
Chr17:39742714 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.374G>C (p.Arg125Pro) single nucleotide variant not provided [RCV000056719] Chr17:41586461 [GRCh38]
Chr17:39742713 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.374G>T (p.Arg125Leu) single nucleotide variant not provided [RCV000056720] Chr17:41586461 [GRCh38]
Chr17:39742713 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.382T>C (p.Ser128Pro) single nucleotide variant not provided [RCV000056721] Chr17:41586453 [GRCh38]
Chr17:39742705 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.4(KRT14):c.382_384delTCC (p.Ser128del) deletion not provided [RCV000056722] Chr17:41586451..41586453 [GRCh38]
Chr17:39742703..39742705 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.380CCT[1] (p.Ser128del) microsatellite not provided [RCV000056723] Chr17:41586450..41586452 [GRCh38]
Chr17:39742702..39742704 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) single nucleotide variant Epidermolysis bullosa simplex [RCV001352937]|not provided [RCV000056724] Chr17:41586450 [GRCh38]
Chr17:39742702 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.386A>G (p.Tyr129Cys) single nucleotide variant not provided [RCV000056725] Chr17:41586449 [GRCh38]
Chr17:39742701 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.389T>C (p.Leu130Pro) single nucleotide variant not provided [RCV000056726] Chr17:41586446 [GRCh38]
Chr17:39742698 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.397G>A (p.Val133Met) single nucleotide variant not provided [RCV000056727] Chr17:41586438 [GRCh38]
Chr17:39742690 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.397G>C (p.Val133Leu) single nucleotide variant not provided [RCV000056728] Chr17:41586438 [GRCh38]
Chr17:39742690 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.397G>T (p.Val133Leu) single nucleotide variant Epidermolysis bullosa simplex [RCV001352828]|not provided [RCV000056729] Chr17:41586438 [GRCh38]
Chr17:39742690 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.398T>C (p.Val133Ala) single nucleotide variant not provided [RCV000056730] Chr17:41586437 [GRCh38]
Chr17:39742689 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.399G>T (p.Val133=) single nucleotide variant not provided [RCV000056731] Chr17:41586436 [GRCh38]
Chr17:39742688 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.400C>T (p.Arg134Cys) single nucleotide variant not provided [RCV000056732] Chr17:41586435 [GRCh38]
Chr17:39742687 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.401G>C (p.Arg134Pro) single nucleotide variant not provided [RCV000056733] Chr17:41586434 [GRCh38]
Chr17:39742686 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.407T>A (p.Leu136Gln) single nucleotide variant not provided [RCV000056734] Chr17:41586428 [GRCh38]
Chr17:39742680 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.407T>C (p.Leu136Pro) single nucleotide variant not provided [RCV000056735] Chr17:41586428 [GRCh38]
Chr17:39742680 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.419A>G (p.Asn140Ser) single nucleotide variant not provided [RCV000056736] Chr17:41586416 [GRCh38]
Chr17:39742668 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.427del (p.Leu143fs) deletion not provided [RCV000056737] Chr17:41586408 [GRCh38]
Chr17:39742660 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.428T>C (p.Leu143Pro) single nucleotide variant not provided [RCV000056738] Chr17:41586407 [GRCh38]
Chr17:39742659 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.442C>T (p.Arg148Cys) single nucleotide variant not provided [RCV000056740] Chr17:41586393 [GRCh38]
Chr17:39742645 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.526-2A>C single nucleotide variant Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015722]|not provided [RCV000056741] Chr17:41585059 [GRCh38]
Chr17:39741311 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.528T>G (p.Ile176Met) single nucleotide variant not provided [RCV000056742] Chr17:41585055 [GRCh38]
Chr17:39741307 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.529_534del (p.Leu177_Thr178del) deletion not provided [RCV000056743] Chr17:41585049..41585054 [GRCh38]
Chr17:39741301..39741306 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.556G>A (p.Val186Ile) single nucleotide variant not provided [RCV000056745] Chr17:41585027 [GRCh38]
Chr17:39741279 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.632G>C (p.Arg211Pro) single nucleotide variant not provided [RCV000056747] Chr17:41584390 [GRCh38]
Chr17:39740642 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.744delinsAG (p.Tyr248Ter) indel not provided [RCV000056748] Chr17:41584278 [GRCh38]
Chr17:39740530 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.749del (p.Lys250fs) deletion Epidermolysis bullosa simplex [RCV001352829]|not provided [RCV000056749] Chr17:41584273 [GRCh38]
Chr17:39740525 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.803T>A (p.Val268Asp) single nucleotide variant not provided [RCV000056750] Chr17:41583884 [GRCh38]
Chr17:39740136 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.808G>A (p.Val270Met) single nucleotide variant Epidermolysis bullosa simplex, Koebner type [RCV001807773]|not provided [RCV000056751] Chr17:41583879 [GRCh38]
Chr17:39740131 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.815T>C (p.Met272Thr) single nucleotide variant not provided [RCV000056752] Chr17:41583872 [GRCh38]
Chr17:39740124 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.818A>G (p.Asp273Gly) single nucleotide variant not provided [RCV000056754] Chr17:41583869 [GRCh38]
Chr17:39740121 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.821C>A (p.Ala274Asp) single nucleotide variant not provided [RCV000056755] Chr17:41583866 [GRCh38]
Chr17:39740118 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.88C>T (p.Arg30Cys) single nucleotide variant Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000714552]|not provided [RCV000056756] Chr17:41586747 [GRCh38]
Chr17:39742999 [GRCh37]
Chr17:17q21.2
benign|uncertain significance|not provided
NM_000526.5(KRT14):c.915G>A (p.Trp305Ter) single nucleotide variant not provided [RCV000056757] Chr17:41583772 [GRCh38]
Chr17:39740024 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.927+1G>A single nucleotide variant not provided [RCV000056758] Chr17:41583759 [GRCh38]
Chr17:39740011 [GRCh37]
Chr17:17q21.2
pathogenic|not provided
NM_000526.5(KRT14):c.927+1G>T single nucleotide variant not provided [RCV000056759] Chr17:41583759 [GRCh38]
Chr17:39740011 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.92del (p.Ile31fs) deletion Abnormality of the skin [RCV001814040]|Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV000015729]|Sjögren-Larsson syndrome [RCV001291416]|not provided [RCV000056760] Chr17:41586743 [GRCh38]
Chr17:39742995 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic|not provided
NM_000526.5(KRT14):c.955A>C (p.Thr319Pro) single nucleotide variant not provided [RCV000056761] Chr17:41583649 [GRCh38]
Chr17:39739901 [GRCh37]
Chr17:17q21.2
not provided
NM_000526.5(KRT14):c.242dup (p.Gly81_Ser82insTer) duplication not provided [RCV000056701] Chr17:41586592..41586593 [GRCh38]
Chr17:39742844..39742845 [GRCh37]
Chr17:17q21.2
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_000526.5(KRT14):c.202G>A (p.Gly68Ser) single nucleotide variant not provided [RCV000894279]|not specified [RCV000253938] Chr17:41586633 [GRCh38]
Chr17:39742885 [GRCh37]
Chr17:17q21.2
benign|likely benign
NM_000526.5(KRT14):c.6C>T (p.Thr2=) single nucleotide variant not provided [RCV001610580]|not specified [RCV000245454] Chr17:41586829 [GRCh38]
Chr17:39743081 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.1109T>C (p.Leu370Pro) single nucleotide variant not provided [RCV000520694] Chr17:41583400 [GRCh38]
Chr17:39739652 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000526.5(KRT14):c.220AGC[4] (p.Ser78_Ser79del) microsatellite not provided [RCV000969685]|not specified [RCV000601816] Chr17:41586598..41586603 [GRCh38]
Chr17:39742850..39742855 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.1194del (p.Glu397_Tyr398insTer) deletion not provided [RCV000598614] Chr17:41583315 [GRCh38]
Chr17:39739567 [GRCh37]
Chr17:17q21.2
pathogenic
KRT14, GLN7TER single nucleotide variant Naegeli-Franceschetti-Jadassohn syndrome [RCV000415603] Chr17:17q21.2 pathogenic
NM_000526.5(KRT14):c.1263C>T (p.Gly421=) single nucleotide variant not specified [RCV000444971] Chr17:41583246 [GRCh38]
Chr17:39739498 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.353C>T (p.Thr118Ile) single nucleotide variant not provided [RCV000487128] Chr17:41586482 [GRCh38]
Chr17:39742734 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000526.5(KRT14):c.1163G>A (p.Arg388His) single nucleotide variant not provided [RCV000487370] Chr17:41583346 [GRCh38]
Chr17:39739598 [GRCh37]
Chr17:17q21.2
pathogenic|likely pathogenic
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
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_000526.5(KRT14):c.54C>T (p.Cys18=) single nucleotide variant not provided [RCV000895450] Chr17:41586781 [GRCh38]
Chr17:39743033 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.40del (p.Ser13_Met14insTer) deletion not provided [RCV000761951] Chr17:41586795 [GRCh38]
Chr17:39743047 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000526.5(KRT14):c.1203G>A (p.Leu401=) single nucleotide variant not provided [RCV000883837] Chr17:41583306 [GRCh38]
Chr17:39739558 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.739G>A (p.Ala247Thr) single nucleotide variant not provided [RCV000943126] Chr17:41584283 [GRCh38]
Chr17:39740535 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.166C>T (p.Arg56Cys) single nucleotide variant not provided [RCV000963160] Chr17:41586669 [GRCh38]
Chr17:39742921 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.427C>T (p.Leu143=) single nucleotide variant not provided [RCV000928620] Chr17:41586408 [GRCh38]
Chr17:39742660 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.126C>T (p.Ala42=) single nucleotide variant not provided [RCV000899829] Chr17:41586709 [GRCh38]
Chr17:39742961 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.58ATCGGGGGCGGC[1] (p.20IGGG[1]) microsatellite not provided [RCV000828439] Chr17:41586754..41586765 [GRCh38]
Chr17:39743006..39743017 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.907G>A (p.Glu303Lys) single nucleotide variant not specified [RCV001194424] Chr17:41583780 [GRCh38]
Chr17:39740032 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.1274+28dup duplication not provided [RCV001597802] Chr17:41583199..41583200 [GRCh38]
Chr17:39739451..39739452 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.385T>C (p.Tyr129His) single nucleotide variant not provided [RCV001562693] Chr17:41586450 [GRCh38]
Chr17:39742702 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000526.5(KRT14):c.1219C>A (p.Arg407=) single nucleotide variant not provided [RCV000966028] Chr17:41583290 [GRCh38]
Chr17:39739542 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.588C>T (p.Ala196=) single nucleotide variant not provided [RCV000895703] Chr17:41584995 [GRCh38]
Chr17:39741247 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.539C>A (p.Thr180Lys) single nucleotide variant not provided [RCV000980331] Chr17:41585044 [GRCh38]
Chr17:39741296 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.648C>G (p.Ala216=) single nucleotide variant not provided [RCV000885317] Chr17:41584374 [GRCh38]
Chr17:39740626 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.252T>C (p.Phe84=) single nucleotide variant not provided [RCV000930004] Chr17:41586583 [GRCh38]
Chr17:39742835 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.78C>T (p.Gly26=) single nucleotide variant not provided [RCV000939724] Chr17:41586757 [GRCh38]
Chr17:39743009 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.906C>T (p.Ala302=) single nucleotide variant not provided [RCV000917752] Chr17:41583781 [GRCh38]
Chr17:39740033 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.506T>C (p.Ile169Thr) single nucleotide variant not provided [RCV000912058] Chr17:41586329 [GRCh38]
Chr17:39742581 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.831C>T (p.Gly277=) single nucleotide variant not provided [RCV000935801] Chr17:41583856 [GRCh38]
Chr17:39740108 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.1161_1165del (p.Cys389fs) deletion not provided [RCV001008278] Chr17:41583344..41583348 [GRCh38]
Chr17:39739596..39739600 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000526.5(KRT14):c.1274+29C>G single nucleotide variant not provided [RCV001681648] Chr17:41583206 [GRCh38]
Chr17:39739458 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) single nucleotide variant Epidermolysis bullosa simplex [RCV001352832] Chr17:41583286 [GRCh38]
Chr17:39739538 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000526.5(KRT14):c.566A>G (p.Gln189Arg) single nucleotide variant not provided [RCV001311883] Chr17:41585017 [GRCh38]
Chr17:39741269 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) single nucleotide variant Epidermolysis bullosa simplex [RCV001352831] Chr17:41583304 [GRCh38]
Chr17:39739556 [GRCh37]
Chr17:17q21.2
pathogenic
NC_000017.10:g.(?_39742562)_(39767973_?)del deletion not provided [RCV001382809] Chr17:39742562..39767973 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000526.5(KRT14):c.1274+5G>C single nucleotide variant Epidermolysis bullosa simplex [RCV001352835] Chr17:41583230 [GRCh38]
Chr17:39739482 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000526.5(KRT14):c.1288C>T (p.Gln430Ter) single nucleotide variant Dermatopathia pigmentosa reticularis [RCV001336921] Chr17:41583127 [GRCh38]
Chr17:39739379 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) single nucleotide variant Epidermolysis bullosa simplex [RCV001352830] Chr17:41583365 [GRCh38]
Chr17:39739617 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000526.5(KRT14):c.851T>C (p.Leu284Pro) single nucleotide variant not provided [RCV001538614] Chr17:41583836 [GRCh38]
Chr17:39740088 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.372C>A (p.Asp124Glu) single nucleotide variant Dermatopathia pigmentosa reticularis [RCV002249091] Chr17:41586463 [GRCh38]
Chr17:39742715 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000526.5(KRT14):c.356T>G (p.Met119Arg) single nucleotide variant Dermatopathia pigmentosa reticularis [RCV002249092] Chr17:41586479 [GRCh38]
Chr17:39742731 [GRCh37]
Chr17:17q21.2
likely pathogenic
NM_000526.5(KRT14):c.1242_1259del (p.Tyr415_Glu420del) deletion Epidermolysis bullosa simplex 1A, generalized severe [RCV001775534] Chr17:41583250..41583267 [GRCh38]
Chr17:39739502..39739519 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000526.5(KRT14):c.856G>A (p.Glu286Lys) single nucleotide variant not provided [RCV001765655] Chr17:41583831 [GRCh38]
Chr17:39740083 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.1321+8C>A single nucleotide variant not provided [RCV001816202] Chr17:41583086 [GRCh38]
Chr17:39739338 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.830G>T (p.Gly277Val) single nucleotide variant Epidermolysis bullosa simplex 1C, localized [RCV001808915] Chr17:41583857 [GRCh38]
Chr17:39740109 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.189_190del (p.Cys63fs) deletion Dermatopathia pigmentosa reticularis [RCV001761763] Chr17:41586645..41586646 [GRCh38]
Chr17:39742897..39742898 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.766G>T (p.Glu256Ter) single nucleotide variant Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [RCV002052092] Chr17:41583921 [GRCh38]
Chr17:39740173 [GRCh37]
Chr17:17q21.2
pathogenic
NM_000526.5(KRT14):c.373C>A (p.Arg125Ser) single nucleotide variant Epidermolysis bullosa simplex, Koebner type [RCV001823427] Chr17:41586462 [GRCh38]
Chr17:39742714 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.211G>A (p.Gly71Ser) single nucleotide variant not provided [RCV001969812] Chr17:41586624 [GRCh38]
Chr17:39742876 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.424G>A (p.Asp142Asn) single nucleotide variant not provided [RCV001987327] Chr17:41586411 [GRCh38]
Chr17:39742663 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.163T>C (p.Ser55Pro) single nucleotide variant not provided [RCV002042420] Chr17:41586672 [GRCh38]
Chr17:39742924 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.1275-1G>A single nucleotide variant not provided [RCV002034242] Chr17:41583141 [GRCh38]
Chr17:39739393 [GRCh37]
Chr17:17q21.2
uncertain significance
NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr) single nucleotide variant not provided [RCV002191745] Chr17:41586647 [GRCh38]
Chr17:39742899 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.1354G>A (p.Val452Ile) single nucleotide variant not provided [RCV002167094] Chr17:41582500 [GRCh38]
Chr17:39738752 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.1274+12C>T single nucleotide variant not provided [RCV002128401] Chr17:41583223 [GRCh38]
Chr17:39739475 [GRCh37]
Chr17:17q21.2
likely benign
NM_000526.5(KRT14):c.608+20C>G single nucleotide variant not provided [RCV002132035] Chr17:41584955 [GRCh38]
Chr17:39741207 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.1275-19T>C single nucleotide variant not provided [RCV002132208] Chr17:41583159 [GRCh38]
Chr17:39739411 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.555T>C (p.Asn185=) single nucleotide variant not provided [RCV002117785] Chr17:41585028 [GRCh38]
Chr17:39741280 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.645A>G (p.Glu215=) single nucleotide variant not provided [RCV002119594] Chr17:41584377 [GRCh38]
Chr17:39740629 [GRCh37]
Chr17:17q21.2
benign
NM_000526.5(KRT14):c.1003C>T (p.Arg335Trp) single nucleotide variant not provided [RCV002263092] Chr17:41583601 [GRCh38]
Chr17:39739853 [GRCh37]
Chr17:17q21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6416 AgrOrtholog
COSMIC KRT14 COSMIC
Ensembl Genes ENSG00000186847 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000167586 ENTREZGENE
  ENSP00000167586.6 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000167586 ENTREZGENE
  ENST00000167586.7 UniProtKB/Swiss-Prot
GTEx ENSG00000186847 GTEx
HGNC ID HGNC:6416 ENTREZGENE
Human Proteome Map KRT14 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:3861 UniProtKB/Swiss-Prot
NCBI Gene 3861 ENTREZGENE
OMIM 125595 OMIM
  131760 OMIM
  131800 OMIM
  131900 OMIM
  148066 OMIM
  161000 OMIM
  601001 OMIM
PANTHER PTHR23239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30203 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
UniProt A0A024R1X6_HUMAN UniProtKB/TrEMBL
  K1C14_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UCY4 ENTREZGENE
UniProt Secondary Q14715 UniProtKB/Swiss-Prot
  Q53XY3 UniProtKB/Swiss-Prot
  Q9BUE3 UniProtKB/Swiss-Prot
  Q9UBN2 UniProtKB/Swiss-Prot
  Q9UBN3 UniProtKB/Swiss-Prot
  Q9UCY4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 KRT14  keratin 14  KRT14  keratin 14, type I  Symbol and/or name change 5135510 APPROVED
2015-01-27 KRT14  keratin 14, type I  KRT14  keratin 14  Symbol and/or name change 5135510 APPROVED