P02533
PR
Gene name |
KRT14 |
Protein name |
Keratin, type I cytoskeletal 14 |
Names |
Cytokeratin-14, CK-14, Keratin-14, K14 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3861 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for P02533
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3TNU | X-ray | 300 A | A | 295-422 | PDB |
| 6JFV | X-ray | 260 A | A/C | 327-421 | PDB |
| AF-P02533-F1 | Predicted | AlphaFoldDB |
517 variants for P02533
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000056695 RCV000015730 rs267607390 |
6 | R>missing | Naegeli-Franceschetti-Jadassohn syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607391 CA216885 RCV000056699 RCV000415603 |
7 | Q>* | Naegeli-Franceschetti-Jadassohn syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000056744 RCV000015731 rs60831116 CA124159 |
18 | C>* | Dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis (dpr) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA216988 RCV000056756 rs201069984 RCV000714552 |
30 | R>C | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001814040 RCV001291416 rs60231560 RCV000056760 RCV000015729 |
31 | I>missing | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive Sjögren-Larsson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002489369 rs117484558 CA8562802 RCV000963160 |
56 | R>C | Epidermolysis bullosa simplex 1A, generalized severe [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000015732 RCV000056703 rs57278315 |
105 | A>missing | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001352789 RCV000056705 CA216895 rs60338701 |
116 | K>* | Epidermolysis bullosa simplex [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA216897 rs59271739 RCV000056706 VAR_010438 |
116 | K>N | EBS1C [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000056709 CA216903 VAR_010439 RCV000015724 rs57358989 |
119 | M>I | Epidermolysis bullosa simplex 1C, localized Variant assessed as Somatic; impact. EBS1C [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs28928893 RCV000015723 CA216901 RCV000056708 VAR_010440 |
119 | M>T | Variant assessed as Somatic; impact. Epidermolysis bullosa simplex 1A, generalized severe EBS1A [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_023719 RCV000056707 RCV001778697 CA216899 RCV002247454 rs61263401 |
119 | M>V | Dermatopathia pigmentosa reticularis Epidermolysis bullosa simplex, Koebner type EBS1B and EBS1C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs60993843 VAR_010441 CA216907 RCV000056711 |
120 | Q>R | EBS1A [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056712 VAR_010442 rs59110575 CA216909 |
122 | L>F | EBS1A and EBS1B [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA216913 VAR_023720 RCV000056714 rs3826549 |
123 | N>K | EBS1A [UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000015733 CA216911 rs60171927 VAR_010443 RCV000056713 |
123 | N>S | Epidermolysis bullosa simplex 1A, generalized severe EBS1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000015716 RCV000056717 rs60399023 CA216919 RCV000679886 RCV002243645 RCV001807730 VAR_003837 |
125 | R>C | Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex 1A, generalized severe Epidermolysis bullosa simplex EBS1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs60399023 CA216917 VAR_023721 RCV000056716 |
125 | R>G | EBS1A [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000015717 CA216921 rs58330629 RCV003137528 VAR_003838 RCV000056718 |
125 | R>H | Dermatopathia pigmentosa reticularis Variant assessed as Somatic; impact. Epidermolysis bullosa simplex 1A, generalized severe EBS1A [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
| VAR_010444 | 125 | R>S | EBS1A [UniProt] | Yes | UniProt |
| VAR_031634 | 128 | S>del | EBS1A [UniProt] | Yes | UniProt |
|
RCV000056724 CA216931 VAR_010445 rs60470268 RCV001352937 |
129 | Y>D | Epidermolysis bullosa simplex EBS1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_023722 rs57522245 RCV000056726 CA216935 |
130 | L>P | EBS1A; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056729 rs61027685 RCV001352828 VAR_023723 RCV000056728 CA216941 CA216939 |
133 | V>L | Epidermolysis bullosa simplex EBS1C and EBS1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA216937 RCV000056727 rs61027685 VAR_086618 |
133 | V>M | Variant assessed as Somatic; impact. EBS1C [NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_031635 rs61540016 RCV000056733 CA216948 |
134 | R>P | EBS1B [UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000056738 VAR_010446 rs61326242 CA216957 |
143 | L>P | EBS1B [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056739 RCV000015718 rs57121345 VAR_003839 CA216959 |
144 | E>A | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive EBS1D [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs58378809 CA216961 RCV000056740 VAR_031636 |
148 | R>C | EBS1C [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs60725382 RCV000056746 RCV000015720 CA216970 |
204 | Y>* | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA216972 rs60589227 VAR_027718 RCV000056747 |
211 | R>P | EBS1C [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_010447 rs147611635 CA8562632 |
247 | A>D | EBS1B [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000056749 rs267607406 RCV001352829 |
250 | K>missing | Epidermolysis bullosa simplex [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086619 | 270 | V>A | EBS1C [UniProt] | Yes | UniProt |
|
RCV000056751 RCV001807773 CA216978 VAR_086620 rs58560979 |
270 | V>M | Epidermolysis bullosa simplex, Koebner type EBS1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA216982 rs61371557 RCV000015721 VAR_003841 RCV000056753 |
272 | M>R | Epidermolysis bullosa simplex, Koebner type EBS1B and EBS1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs61371557 VAR_027719 RCV000056752 CA216980 |
272 | M>T | EBS1B and EBS1C [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA216984 VAR_010448 rs59375065 RCV000056754 |
273 | D>G | EBS1C [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA216986 VAR_010449 rs58785777 RCV000056755 |
274 | A>D | EBS1C [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056663 rs56974573 RCV000015719 VAR_003842 |
375 | E>missing | Epidermolysis bullosa simplex 1C, localized EBS1C [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs56974573 VAR_003842 |
375 | E>del | EBS1C [UniProt] | Yes |
UniProt dbSNP |
|
VAR_010450 RCV000056664 rs61536893 CA216821 |
377 | I>N | EBS1C [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA216823 RCV000056665 rs61536893 RCV001777147 VAR_086621 |
377 | I>T | Epidermolysis bullosa simplex 1C, localized EBS1C; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs773920224 RCV001352830 |
382 | E>* | Epidermolysis bullosa simplex [ClinVar] | Yes |
ClinVar dbSNP |
|
CA216827 RCV000015715 VAR_003843 RCV000056667 rs59629244 |
384 | L>P | Epidermolysis bullosa simplex, Koebner type EBS1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs59966597 VAR_010451 RCV000626696 CA216831 RCV000056669 |
388 | R>C | EBS1C; also found in a patient with epidermolysis bullosa simplex with unspecified subtype [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000487370 rs58645163 CA8562484 VAR_031637 |
388 | R>H | EBS1D [UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs58393329 RCV000056672 RCV001823105 CA216837 |
396 | Q>* | Epidermolysis bullosa simplex 1C, localized [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1907401835 RCV001352831 |
402 | L>R | Epidermolysis bullosa simplex [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_023724 CA216842 rs57200223 RCV000056675 |
408 | L>M | EBS1C [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1907400034 RCV001352832 |
408 | L>Q | Epidermolysis bullosa simplex [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000056678 CA216848 RCV001778695 rs61664582 |
411 | E>* | Epidermolysis bullosa simplex, Koebner type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_027720 rs267607389 RCV001352833 RCV000056679 |
411 | E>missing | EBS1C; also found in a patient with epidermolysis bullosa simplex with unspecified subtype Epidermolysis bullosa simplex [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
VAR_027720 rs267607389 |
411 | E>del | EBS1C; also found in a patient with epidermolysis bullosa simplex with unspecified subtype [UniProt] | Yes |
UniProt dbSNP |
|
CA216852 VAR_086622 RCV000056680 rs267607403 |
412 | I>F | EBS1C; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002490637 RCV000056682 rs59780231 CA216856 VAR_023725 |
413 | A>T | Epidermolysis bullosa simplex 1A, generalized severe EBS1B and EBS1C; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs59442925 RCV000056686 VAR_031638 CA216863 RCV001352834 |
415 | Y>C | Epidermolysis bullosa simplex EBS1C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001731185 RCV000056685 CA216861 rs58380626 VAR_003844 |
415 | Y>H | Epidermolysis bullosa simplex, Koebner type EBS1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001778696 rs58357841 RCV000056687 |
416 | R>missing | Epidermolysis bullosa simplex 1A, generalized severe [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_031639 rs60622724 CA216866 RCV000056688 |
416 | R>P | EBS1A [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA216868 rs61085704 RCV000056689 VAR_027721 |
417 | R>P | EBS1A [UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_071705 | 418 | L>Q | EBS1C [UniProt] | Yes | UniProt |
|
RCV000056691 RCV000015727 rs57364972 VAR_003845 CA216872 |
419 | L>Q | Epidermolysis bullosa simplex 1A, generalized severe EBS1A [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001731186 RCV000056692 VAR_010452 rs58762773 CA216874 |
422 | E>K | Epidermolysis bullosa simplex 1C, localized EBS1C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs765738033 CA8562844 |
2 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1449926174 CA399484239 |
4 | C>Y | No |
ClinGen Ensembl |
|
|
CA8562842 rs753894587 |
5 | S>G | No |
ClinGen ExAC |
|
|
rs766646368 CA8562841 |
6 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760882737 CA8562840 |
6 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA399484161 rs760882737 |
6 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760882737 CA399484177 |
6 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766646368 CA399484187 |
6 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562839 rs763817312 |
7 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1235530318 CA399484142 |
7 | Q>P | No |
ClinGen gnomAD |
|
|
CA399484100 rs1156635262 |
8 | F>S | No |
ClinGen TOPMed |
|
|
CA399484075 rs1410997626 |
9 | T>I | No |
ClinGen gnomAD |
|
|
rs868637793 CA290665671 |
10 | S>F | No |
ClinGen Ensembl |
|
|
CA399484070 rs1374827316 |
10 | S>P | No |
ClinGen gnomAD |
|
|
RCV000761951 rs1567738332 |
13 | S>* | No |
ClinVar dbSNP |
|
|
rs1350093432 CA399483963 |
14 | M>L | No |
ClinGen gnomAD |
|
|
CA399483954 rs1166730746 |
14 | M>R | No |
ClinGen gnomAD |
|
|
CA399483957 rs1166730746 |
14 | M>T | No |
ClinGen gnomAD |
|
|
rs1350093432 CA399483965 |
14 | M>V | No |
ClinGen gnomAD |
|
|
CA399483923 rs1455415891 |
15 | K>E | No |
ClinGen gnomAD |
|
|
rs1318809672 CA399483905 |
15 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1457403673 CA399483839 |
17 | S>F | No |
ClinGen TOPMed |
|
|
CA399483830 rs1159749209 |
18 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399483836 rs1159749209 |
18 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769745467 CA8562836 |
19 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189537125 CA399483772 |
20 | I>S | No |
ClinGen gnomAD |
|
|
rs1215846581 CA399483746 |
21 | G>E | No |
ClinGen gnomAD |
|
|
rs1253837899 CA399483754 |
21 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777522790 CA8562830 |
23 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777522790 CA8562831 |
23 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399483684 rs1597800161 |
24 | I>F | No |
ClinGen Ensembl |
|
|
rs1299888635 CA399483678 |
24 | I>T | No |
ClinGen gnomAD |
|
|
CA399483659 rs1327472230 |
25 | G>E | No |
ClinGen gnomAD |
|
|
CA8562829 rs556526711 |
25 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1159632697 CA399483640 |
27 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779340321 CA8562827 |
27 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290665666 rs200941154 |
28 | S>P | No |
ClinGen Ensembl |
|
|
CA8562824 rs538124790 |
28 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753987047 CA8562823 |
29 | S>G | No |
ClinGen ExAC |
|
|
CA8562822 rs756137651 |
30 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399483601 rs756137651 |
30 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750673779 CA8562821 |
31 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs762702328 CA8562819 COSM1520964 |
34 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA290665663 rs548262562 |
35 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA399483524 rs1254737268 |
36 | A>T | No |
ClinGen gnomAD |
|
|
COSM1256075 CA399483505 rs1312208815 |
37 | G>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA399483508 rs1312208815 |
37 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs765150501 CA8562816 |
38 | G>E | No |
ClinGen ExAC TOPMed |
|
|
CA399483479 rs1597800087 |
39 | S>A | No |
ClinGen Ensembl |
|
|
rs11551750 CA290665661 |
39 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 39 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354476154 CA399483456 |
40 | C>F | No |
ClinGen TOPMed |
|
|
rs536753971 CA8562814 |
41 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399483446 rs536753971 |
41 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566001198 CA8562813 COSM148271 |
41 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA399483441 rs566001198 |
41 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399483443 rs566001198 |
41 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399483449 rs536753971 |
41 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399483429 rs1250998048 |
42 | A>S | No |
ClinGen TOPMed |
|
|
CA399483433 rs1250998048 |
42 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399483404 rs1302148281 |
43 | P>L | No |
ClinGen gnomAD |
|
|
RCV000056693 rs59829117 |
44 | S>missing | No |
ClinVar dbSNP |
|
|
CA8562811 rs773041960 |
44 | S>N | Variant assessed as Somatic; 5.293e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8562810 rs201931536 |
45 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753338461 CA290665658 |
46 | Y>D | No |
ClinGen Ensembl |
|
|
CA399483332 rs1194215362 |
47 | G>E | No |
ClinGen gnomAD |
|
|
rs374429058 CA8562808 |
47 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550076306 CA290665657 |
48 | G>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1486286930 CA399483305 |
49 | G>D | No |
ClinGen gnomAD |
|
|
COSM1662520 rs768837237 CA8562807 |
49 | G>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA399483292 rs1202404380 |
50 | L>P | No |
ClinGen gnomAD |
|
|
CA399483260 rs1270390371 |
52 | V>A | No |
ClinGen gnomAD |
|
|
rs1340895845 CA399483266 |
52 | V>F | No |
ClinGen gnomAD |
|
|
rs1340895845 CA399483270 |
52 | V>I | No |
ClinGen gnomAD |
|
|
CA290665656 rs11551751 |
54 | S>F | No |
ClinGen gnomAD |
|
|
CA8562804 rs756225120 |
54 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427865521 CA399483213 COSM979254 |
56 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs117484558 CA399483219 |
56 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8562800 rs751661237 |
59 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399483158 CA399483160 rs1367015717 |
60 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399483154 rs1367015717 |
60 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8562797 rs753861629 |
61 | G>R | No |
ClinGen ExAC |
|
|
rs760311515 CA8562795 |
62 | A>D | No |
ClinGen ExAC TOPMed |
|
|
CA399483119 rs760311515 |
62 | A>V | No |
ClinGen ExAC TOPMed |
|
|
RCV000056696 rs6503640 |
63 | C>= | No |
ClinVar dbSNP |
|
|
RCV000056696 rs1555572096 |
63 | C>= | No |
ClinVar dbSNP |
|
|
rs6503640 CA399483097 |
63 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399483101 rs6503640 |
63 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399483092 rs11551758 |
63 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs386797102 CA290665654 |
63 | C>Y | No |
ClinGen Ensembl |
|
|
rs6503640 CA8562793 VAR_055347 |
63 | C>Y | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA399483088 rs1273137363 |
64 | G>R | No |
ClinGen gnomAD |
|
|
CA399483078 rs1197117964 |
64 | G>V | No |
ClinGen gnomAD |
|
|
CA399483074 rs3826551 |
65 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399483073 rs3826551 |
65 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8562790 rs749619996 |
66 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs749619996 CA8562789 |
66 | G>W | No |
ClinGen ExAC gnomAD |
|
| rs769596857 | 67 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8562788 rs780585472 |
67 | G>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000253938 CA8562786 rs142137272 RCV000894279 |
68 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8562783 rs757222057 |
69 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs374199640 CA8562785 |
69 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399482997 rs1393300239 |
70 | G>C | No |
ClinGen gnomAD |
|
|
rs753666745 CA8562779 |
71 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562780 rs556361680 |
71 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399482988 rs753666745 |
71 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750261536 CA8562777 |
72 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290665647 rs61729636 |
72 | G>S | No |
ClinGen Ensembl |
|
|
CA8562776 rs750261536 |
72 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562774 rs761188204 |
74 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs763711752 CA8562772 |
75 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA399482958 rs1266187782 |
76 | S>N | No |
ClinGen gnomAD |
|
|
RCV000601816 RCV000969685 rs747557834 |
78 | S>missing | No |
ClinVar dbSNP |
|
|
CA399482941 rs1336609835 |
78 | S>T | No |
ClinGen gnomAD |
|
|
rs775825212 CA8562771 |
79 | S>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000056701 rs59799857 |
81 | G>* | No |
ClinVar dbSNP |
|
|
CA8562766 rs746395789 |
83 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770075340 CA8562767 |
83 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1280526971 CA399482895 |
85 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 85 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463244515 CA399482886 |
86 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8562762 rs778192358 |
89 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325417504 CA399482870 |
89 | G>S | No |
ClinGen gnomAD |
|
|
rs374413464 CA290665637 |
90 | G>C | No |
ClinGen Ensembl |
|
|
rs1450806388 CA399482857 |
91 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1597799907 CA399482845 |
93 | G>D | No |
ClinGen Ensembl |
|
|
CA216890 RCV000056702 RCV000248897 rs3826550 VAR_010437 |
94 | A>T | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA8562761 rs749163953 |
94 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8562758 rs750404298 CA8562757 |
96 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA399482817 rs1476741932 |
98 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399482818 rs1476741932 |
98 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399482814 rs1376594848 |
99 | G>S | No |
ClinGen gnomAD |
|
|
rs751018324 CA8562754 |
100 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8562752 rs536296269 |
101 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8562750 rs775062151 |
102 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs765604315 CA8562749 |
103 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555572045 CA8562744 |
105 | A>G | No |
ClinGen Ensembl |
|
|
rs771322821 CA8562746 |
105 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562742 rs773422606 |
108 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772213277 CA8562741 |
109 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs748396111 CA399482697 |
110 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562740 rs748396111 |
110 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326842738 CA399482682 |
111 | L>P | No |
ClinGen TOPMed |
|
|
CA8562738 rs769668914 |
114 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA216893 rs60338701 RCV000056704 |
116 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399482605 rs1227334096 |
117 | V>A | No |
ClinGen TOPMed |
|
|
rs1227334096 CA399482604 |
117 | V>G | No |
ClinGen TOPMed |
|
|
rs1064794983 RCV000487128 CA16620405 |
118 | T>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1064794983 CA399482596 |
118 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs60993843 CA216905 RCV000056710 |
120 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399482560 rs1252105996 |
121 | N>S | No |
ClinGen Ensembl |
|
|
COSM261714 CA8562733 rs757852003 |
124 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
VAR_086617 RCV000056720 rs58330629 CA216925 |
125 | R>L | probable disease-associated variant found in a patient with epidermolysis bullosa simplex with unspecified subtype [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000056719 CA216923 rs58330629 |
125 | R>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8562730 rs374436319 |
127 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000056721 rs267607396 CA216927 |
128 | S>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs61221088 RCV000056723 |
128 | S>missing | No |
ClinVar dbSNP |
|
|
rs267607396 CA399482493 |
128 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs60352920 RCV000056725 CA216933 |
129 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA216942 rs1555603282 VAR_033496 RCV000056730 |
133 | V>A | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
|
rs58706476 CA216946 RCV000056732 |
134 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs61540016 COSM302510 CA399482402 |
134 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs773798909 CA8562727 |
135 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA216952 RCV000056735 rs267607392 |
136 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000056734 CA216950 rs267607392 |
136 | L>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1161500001 CA399482309 |
139 | A>G | No |
ClinGen TOPMed |
|
|
CA216954 RCV000056736 rs267607397 |
140 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs768747443 CA8562723 |
141 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399482267 rs1272288927 |
141 | A>V | No |
ClinGen gnomAD |
|
|
rs1288815057 CA399482245 |
142 | D>A | No |
ClinGen TOPMed |
|
|
rs146142399 CA8562722 |
142 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs57180772 RCV000056737 |
143 | L>missing | No |
ClinVar dbSNP |
|
|
rs1368191913 CA399482206 |
144 | E>Q | No |
ClinGen gnomAD |
|
|
CA8562719 rs202024114 |
145 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399482132 rs1356468503 |
147 | I>N | No |
ClinGen TOPMed |
|
|
rs58378809 CA8562718 |
148 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1421315663 CA399482114 |
148 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs777644171 CA8562717 |
149 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8562716 rs138397561 |
152 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399482005 rs371122572 |
155 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM979252 CA8562714 rs371122572 |
155 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146346549 CA8562715 |
155 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399481978 rs1165621048 |
157 | A>G | No |
ClinGen TOPMed |
|
|
rs377281304 CA8562713 |
157 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377281304 CA399481984 |
157 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753464942 CA399481963 COSM261713 |
158 | E>D | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 161 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399481902 rs1597799738 |
162 | Y>N | No |
ClinGen Ensembl |
|
|
rs1334654175 CA399481839 |
165 | Y>F | No |
ClinGen gnomAD |
|
|
rs200703793 CA8562708 |
167 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8562707 rs373010734 RCV000912058 |
169 | I>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA8562705 rs762040846 |
170 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774567423 COSM979251 CA8562704 |
173 | R>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA399481453 rs1455492561 |
176 | I>L | No |
ClinGen gnomAD |
|
|
CA216964 rs61765950 RCV000056742 |
176 | I>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs62652044 RCV000056743 |
177 | L>missing | No |
ClinVar dbSNP |
|
|
CA290665296 rs202184505 |
177 | L>P | No |
ClinGen Ensembl |
|
|
CA290665295 rs200761340 |
178 | T>P | No |
ClinGen Ensembl |
|
|
rs1410283559 CA399481367 |
180 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
RCV000980331 CA8562689 rs752051443 COSM3691558 |
180 | T>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764099366 CA8562688 |
181 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8562685 rs765478099 |
184 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs267607651 CA216968 RCV000056745 |
186 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399481222 rs1298559785 |
187 | L>F | No |
ClinGen gnomAD |
|
|
rs771792233 CA8562682 |
187 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8562680 RCV001311883 rs748092575 |
189 | Q>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs774296675 CA8562679 |
190 | I>T | No |
ClinGen ExAC TOPMed |
|
|
rs577609740 CA8562677 |
194 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8562676 COSM3402890 rs772876124 |
194 | R>H | central_nervous_system Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA399480979 rs1171832560 |
197 | A>T | No |
ClinGen gnomAD |
|
|
rs1453932367 CA399480966 |
197 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1324613854 CA399480960 |
198 | D>G | No |
ClinGen TOPMed |
|
|
CA8562673 COSM979250 rs781699457 |
201 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1427060922 CA399479184 COSM1212791 |
201 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA399479197 rs781699457 |
201 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562658 rs769369544 |
205 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1597799054 CA399478751 |
209 | N>T | No |
ClinGen Ensembl |
|
|
CA8562654 rs369639773 |
211 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8562656 rs369639773 |
211 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs60589227 CA8562652 |
211 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs60589227 CA8562653 |
211 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562655 rs369639773 |
211 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8562650 rs75795684 |
215 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399478540 rs1441399953 |
215 | E>G | No |
ClinGen TOPMed |
|
|
rs11551755 CA290665148 VAR_049784 |
215 | E>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs751917171 CA8562645 |
219 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1168751694 CA399478414 |
220 | G>S | No |
ClinGen gnomAD |
|
|
CA8562642 rs775519978 |
222 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM979247 CA399478368 rs1328900707 |
222 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1475822957 CA399478354 |
223 | R>K | No |
ClinGen gnomAD |
|
|
rs1475822957 CA399478352 |
223 | R>T | No |
ClinGen gnomAD |
|
|
CA399478321 rs1597799015 |
224 | V>G | No |
ClinGen Ensembl |
|
|
CA399478287 CA8562640 rs778024258 |
226 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399478273 rs1179039679 |
227 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1436764481 CA399478232 |
229 | T>I | No |
ClinGen gnomAD |
|
|
rs770692117 CA399478199 |
231 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8562638 rs770692117 |
231 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1313536993 CA399478164 |
233 | A>P | No |
ClinGen TOPMed |
|
|
rs1272326607 CA399478081 |
237 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778207834 CA8562636 |
239 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA8562637 rs778207834 |
239 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA399477947 rs748715702 |
244 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 245 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236929699 CA399477942 |
245 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399477922 rs1195451375 |
246 | L>M | No |
ClinGen TOPMed |
|
|
RCV000943126 CA8562633 rs574163361 |
247 | A>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs60779206 CA216974 RCV000056748 |
248 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753894526 CA8562631 |
248 | Y>H | No |
ClinGen ExAC |
|
|
CA399477847 rs1393388714 |
250 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8562630 rs780313641 |
250 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1462355601 | 251 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399477820 rs1285938130 |
251 | K>T | No |
ClinGen gnomAD |
|
|
CA399477795 rs1567737096 |
252 | N>K | No |
ClinGen Ensembl |
|
|
CA399477800 rs1325665812 |
252 | N>S | No |
ClinGen gnomAD |
|
|
rs763971684 CA8562628 |
254 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763971684 CA8562627 |
254 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534435462 CA399477737 |
255 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8562609 rs528295894 |
256 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399477723 rs528295894 |
256 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs11551754 CA290665046 |
257 | M>I | No |
ClinGen Ensembl |
|
|
rs758258320 CA399477712 |
257 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA8562608 rs758258320 |
257 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399477696 rs1360890011 |
259 | A>V | No |
ClinGen TOPMed |
|
|
CA399477695 rs1193927151 |
260 | L>M | No |
ClinGen gnomAD |
|
|
CA399477693 rs1455379831 |
260 | L>P | No |
ClinGen gnomAD |
|
|
rs1428345804 CA399477687 |
261 | R>T | No |
ClinGen TOPMed |
|
|
rs201261098 CA8562607 |
262 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754973305 CA8562605 |
264 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1218847749 CA399477665 |
265 | G>R | No |
ClinGen gnomAD |
|
|
CA290665037 rs878981333 |
267 | D>N | No |
ClinGen Ensembl |
|
|
rs267607398 RCV000056750 CA216976 |
268 | V>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA399477637 rs1269427556 |
269 | N>S | No |
ClinGen TOPMed |
|
|
rs772958899 CA399477565 |
273 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767056360 CA8562600 |
274 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 277 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768948990 CA8562596 |
278 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768948990 CA8562597 |
278 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186369798 CA8562595 |
280 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753771700 CA8562594 |
282 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562592 COSM1520965 rs375620492 |
282 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8562593 rs375620492 |
282 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202157466 CA8562590 |
286 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399477408 rs1167092471 |
287 | M>V | No |
ClinGen gnomAD |
|
|
CA8562589 rs747163920 |
288 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA399477383 rs747163920 |
288 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562588 COSM3187544 rs778867001 |
288 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA399477337 rs1484710075 |
290 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8562587 rs754774256 |
290 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs753861568 CA8562586 |
291 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 292 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8562585 rs779824101 |
292 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314155241 CA399477293 |
293 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8562584 rs200836945 |
294 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8562583 rs199868373 |
299 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA399477165 rs1340555215 |
300 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001194424 RCV002559229 rs1907424216 |
303 | E>K | No |
ClinVar dbSNP |
|
|
rs1354194713 CA399477102 |
304 | E>A | No |
ClinGen gnomAD |
|
|
RCV000056757 rs60090257 CA216990 |
305 | W>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs761466574 CA8562581 |
305 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763362842 CA8562560 |
311 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1323634603 CA399476938 |
311 | E>V | No |
ClinGen gnomAD |
|
|
CA8562558 rs765568119 |
312 | E>A | No |
ClinGen ExAC TOPMed |
|
|
CA8562559 rs752996344 |
312 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs759976654 CA8562557 |
315 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562556 rs573490774 |
315 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA8562555 rs573490774 |
315 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8562553 rs773622623 |
316 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA399476802 rs1362825535 |
319 | T>I | No |
ClinGen gnomAD |
|
|
RCV000056761 CA216995 rs267607405 |
319 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1468350198 CA399476750 |
322 | E>K | No |
ClinGen gnomAD |
|
|
rs1178177123 CA399476737 |
323 | L>V | No |
ClinGen TOPMed |
|
|
rs749177933 CA8562551 |
326 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8562549 rs769580738 |
327 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562546 rs151161753 |
330 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781073624 CA8562547 |
330 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746508687 CA8562545 |
331 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs777468217 CA8562544 |
332 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420455277 CA399476550 |
335 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765544134 CA8562541 |
335 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs755331521 CA8562540 |
336 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199651076 CA8562539 |
336 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454078077 CA399476531 |
337 | T>P | No |
ClinGen gnomAD |
|
|
CA399476500 rs1485172717 |
338 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201507105 CA8562536 |
338 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201507105 CA8562537 |
338 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1260726480 CA399476490 |
339 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs767641928 CA8562535 |
340 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA8562534 rs761956765 |
341 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA399476444 rs1277684376 |
342 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1233144309 CA399476407 |
344 | E>K | No |
ClinGen gnomAD |
|
|
CA399476283 rs1380370160 |
350 | S>T | No |
ClinGen gnomAD |
|
|
CA8562531 rs745649775 |
351 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8562502 rs551908648 |
352 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1255310136 CA399476081 |
356 | E>G | No |
ClinGen TOPMed |
|
|
CA8562501 rs751005361 |
357 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs757335335 CA8562499 |
361 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs781706060 CA8562500 |
361 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399475945 rs1259435362 |
364 | G>D | No |
ClinGen TOPMed |
|
|
CA399475949 rs1308609637 |
364 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 364 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8562498 rs530726563 |
365 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764013329 CA8562497 |
365 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA399475914 rs1292636690 |
366 | Y>C | No |
ClinGen gnomAD |
|
|
CA399475897 rs1216906283 |
367 | C>Y | No |
ClinGen gnomAD |
|
|
CA8562494 rs763248185 |
368 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 368 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752866324 CA8562493 |
369 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555571799 RCV000520694 CA399475866 |
370 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs267607401 RCV000056662 |
373 | I>missing | No |
ClinVar dbSNP |
|
|
CA8562492 rs766194186 |
376 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399475823 rs766194186 |
376 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174789424 CA399475813 |
378 | G>S | No |
ClinGen TOPMed |
|
|
CA8562491 rs760432956 |
379 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563641073 CA399475802 |
379 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772032843 CA8562489 |
380 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216825 rs267607399 RCV000056666 |
381 | E>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA399475795 rs267607399 |
381 | E>Q | No |
ClinGen TOPMed |
|
|
rs773920224 CA8562487 |
382 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290664858 rs200654409 |
385 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8562486 rs767995409 |
387 | L>H | No |
ClinGen ExAC |
|
|
rs1369701674 CA399475751 |
387 | L>I | No |
ClinGen gnomAD |
|
|
RCV000056668 rs59966597 CA216829 |
388 | R>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV000056670 CA216833 rs58645163 |
388 | R>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001008278 rs1597798429 |
389 | C>missing | No |
ClinVar dbSNP |
|
|
CA399475704 rs1467006522 |
390 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1467006522 CA399475709 |
390 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1312659715 CA399475681 |
391 | M>I | No |
ClinGen TOPMed |
|
|
CA290664852 rs758942543 |
391 | M>V | No |
ClinGen gnomAD |
|
|
CA216835 rs267607395 RCV000056671 |
392 | E>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs267607395 CA8562482 |
392 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs58393329 CA8562481 |
396 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000598614 rs1555571791 |
397 | E>* | No |
ClinVar dbSNP |
|
|
CA399475539 rs1352692209 |
400 | I>S | No |
ClinGen TOPMed |
|
|
CA216839 RCV000056673 rs267607394 |
401 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA290664839 rs771382097 |
403 | D>G | No |
ClinGen Ensembl |
|
|
CA399475485 rs1190085473 |
404 | V>A | No |
ClinGen TOPMed |
|
|
rs752958645 CA8562477 |
404 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765424095 CA8562476 |
406 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs58397858 RCV000056674 |
407 | R>missing | No |
ClinVar dbSNP |
|
|
rs149217449 CA399475444 |
407 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767154712 CA8562473 RCV000518885 |
407 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA399475442 rs149217449 |
407 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs540751010 CA8562471 |
409 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000056676 CA216844 rs267607400 |
410 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1452477500 CA399475393 |
410 | Q>H | No |
ClinGen gnomAD |
|
|
CA216846 RCV000056677 rs61664582 |
411 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs267607393 CA216854 RCV000056681 |
412 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs59780231 RCV000056683 CA216858 |
413 | A>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1055378322 CA290664819 |
413 | A>V | No |
ClinGen TOPMed |
|
|
RCV000056684 rs267607404 |
414 | T>missing | No |
ClinVar dbSNP |
|
|
rs146367520 CA8562469 |
414 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA399475337 rs1597798365 |
414 | T>P | No |
ClinGen Ensembl |
|
|
CA8562466 rs777067461 |
416 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs60622724 CA8562465 |
416 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs60622724 CA399475299 |
416 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777067461 CA8562467 |
416 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372767001 CA8562464 |
417 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61085704 CA8562463 |
417 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61085704 CA399475285 |
417 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs59440884 RCV000056690 CA216870 |
418 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs758522995 CA8562462 |
420 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1242625413 CA399475242 |
421 | G>S | No |
ClinGen gnomAD |
|
|
rs1319485636 CA399475224 |
422 | E>A | No |
ClinGen TOPMed |
|
|
CA399475229 rs58762773 |
422 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1265727736 CA399475192 |
424 | A>T | No |
ClinGen TOPMed |
|
|
rs1191766601 CA399475056 |
426 | L>H | No |
ClinGen TOPMed |
|
|
CA399475008 rs1425770546 |
429 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8562417 rs377092456 |
430 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211121675 CA399474943 |
434 | G>V | No |
ClinGen gnomAD |
|
|
CA8562415 rs149391578 |
435 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8562416 rs149391578 |
435 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 441 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399472988 rs1323731428 |
441 | V>A | No |
ClinGen gnomAD |
|
|
rs1567736422 CA399474818 |
441 | V>L | No |
ClinGen Ensembl |
|
|
CA399472983 rs1260558816 |
442 | T>P | No |
ClinGen TOPMed |
|
|
rs775441985 CA8562393 |
443 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399472968 rs775441985 |
443 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8562392 rs769859839 |
444 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA290664571 rs576427037 |
446 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs558258991 CA8562391 |
446 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139800658 CA8562390 |
449 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867293223 CA290664562 |
449 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs867293223 CA399472830 |
449 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1240419815 CA399472811 |
450 | T>I | No |
ClinGen gnomAD |
|
|
CA8562389 rs772039469 |
451 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 452 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11551760 CA8562388 |
452 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290664561 rs867322663 |
453 | M>I | No |
ClinGen Ensembl |
|
|
rs1223099484 CA399472706 |
453 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA290664559 rs779259167 |
454 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA290664560 rs4380102 |
454 | D>Y | No |
ClinGen Ensembl |
|
|
CA399472659 rs1240423447 |
455 | V>M | No |
ClinGen gnomAD |
|
|
CA399472598 rs372559964 |
456 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1445686643 CA399472635 |
456 | H>Y | No |
ClinGen gnomAD |
|
|
CA399472594 COSM1710282 rs1386068451 |
457 | D>N | Variant assessed as Somatic; 0.0 impact. skin breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1438646804 CA399472528 |
460 | V>M | No |
ClinGen gnomAD |
|
|
CA8562384 rs779457232 |
461 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA399472408 rs1236154356 |
466 | Q>L | No |
ClinGen TOPMed |
|
|
CA8562381 rs767136981 |
467 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 468 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8562380 rs138275786 |
469 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779936319 CA290664534 |
469 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
6 associated diseases with P02533
[MIM: 131760]: Epidermolysis bullosa simplex 1A, generalized severe (EBS1A)
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1A is an autosomal dominant form characterized by generalized intraepidermal skin blistering that begins and is very prominent at birth. EBS1A may be life-threatening in the first year of life. Tendency to blistering diminishes in adolescence. {ECO:0000269|PubMed:10583131, ECO:0000269|PubMed:10730767, ECO:0000269|PubMed:10733662, ECO:0000269|PubMed:10820403, ECO:0000269|PubMed:11710919, ECO:0000269|PubMed:12603865, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:14987259, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:1717157, ECO:0000269|PubMed:21375516, ECO:0000269|PubMed:26432462, ECO:0000269|PubMed:7506097, ECO:0000269|PubMed:7561171, ECO:0000269|PubMed:7688405, ECO:0000269|PubMed:8601736, ECO:0000269|PubMed:9804355, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.37}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 131800]: Epidermolysis bullosa simplex 1C, localized (EBS1C)
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic. {ECO:0000269|PubMed:10733662, ECO:0000269|PubMed:12603865, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:14987259, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:21375516, ECO:0000269|PubMed:26432462, ECO:0000269|PubMed:7506606, ECO:0000269|PubMed:7561171, ECO:0000269|PubMed:9284105, ECO:0000269|PubMed:9804357, ECO:0000269|PubMed:9989794}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 131900]: Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B)
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1B is an autosomal dominant form characterized by generalized intraepidermal blistering beginning at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. {ECO:0000269|PubMed:10733662, ECO:0000269|PubMed:10820403, ECO:0000269|PubMed:11710919, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:1720261, ECO:0000269|PubMed:7526926, ECO:0000269|PubMed:7682883, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.10, ECO:0000269|Ref.37}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 601001]: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (EBS1D)
A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1D is an autosomal recessive form characterized by blistering beginning at birth or early childhood. In some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age. {ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:22832485, ECO:0000269|PubMed:7526933}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 161000]: Naegeli-Franceschetti-Jadassohn syndrome (NFJS)
A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. {ECO:0000269|PubMed:16960809}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 125595]: Dermatopathia pigmentosa reticularis (DPR)
A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. {ECO:0000269|PubMed:16960809}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1A is an autosomal dominant form characterized by generalized intraepidermal skin blistering that begins and is very prominent at birth. EBS1A may be life-threatening in the first year of life. Tendency to blistering diminishes in adolescence. {ECO:0000269|PubMed:10583131, ECO:0000269|PubMed:10730767, ECO:0000269|PubMed:10733662, ECO:0000269|PubMed:10820403, ECO:0000269|PubMed:11710919, ECO:0000269|PubMed:12603865, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:14987259, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:1717157, ECO:0000269|PubMed:21375516, ECO:0000269|PubMed:26432462, ECO:0000269|PubMed:7506097, ECO:0000269|PubMed:7561171, ECO:0000269|PubMed:7688405, ECO:0000269|PubMed:8601736, ECO:0000269|PubMed:9804355, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.37}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic. {ECO:0000269|PubMed:10733662, ECO:0000269|PubMed:12603865, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:14987259, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:21375516, ECO:0000269|PubMed:26432462, ECO:0000269|PubMed:7506606, ECO:0000269|PubMed:7561171, ECO:0000269|PubMed:9284105, ECO:0000269|PubMed:9804357, ECO:0000269|PubMed:9989794}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1B is an autosomal dominant form characterized by generalized intraepidermal blistering beginning at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. {ECO:0000269|PubMed:10733662, ECO:0000269|PubMed:10820403, ECO:0000269|PubMed:11710919, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:1720261, ECO:0000269|PubMed:7526926, ECO:0000269|PubMed:7682883, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.10, ECO:0000269|Ref.37}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1D is an autosomal recessive form characterized by blistering beginning at birth or early childhood. In some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age. {ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:22832485, ECO:0000269|PubMed:7526933}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. {ECO:0000269|PubMed:16960809}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. {ECO:0000269|PubMed:16960809}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| intermediate filament | A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins. |
| keratin filament | A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| keratin filament binding | Binding to a keratin filament, an intermediate filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| aging | A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). |
| epidermis development | The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. |
| epithelial cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium. |
| hair cycle | The cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. |
| intermediate filament bundle assembly | The formation of the bundles of intermediate filaments. Intermediate filament-associated proteins (IFAPs) cross-link intermediate filaments with one another, forming a bundle or a network, and with other cell structures, including the plasma membrane. The organization of intermediate filaments and their supportive function in various cells types depends in large part on their linkage to other cell structures via IFAPs. |
| intermediate filament organization | Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04695 | KRT17 | Keratin, type I cytoskeletal 17 | Homo sapiens (Human) | PR |
| P05783 | KRT18 | Keratin, type I cytoskeletal 18 | Homo sapiens (Human) | PR |
| P19012 | KRT15 | Keratin, type I cytoskeletal 15 | Homo sapiens (Human) | PR |
| Q61781 | Krt14 | Keratin, type I cytoskeletal 14 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTCSRQFTS | SSSMKGSCGI | GGGIGGGSSR | ISSVLAGGSC | RAPSTYGGGL | SVSSSRFSSG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GACGLGGGYG | GGFSSSSSSF | GSGFGGGYGG | GLGAGLGGGF | GGGFAGGDGL | LVGSEKVTMQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NLNDRLASYL | DKVRALEEAN | ADLEVKIRDW | YQRQRPAEIK | DYSPYFKTIE | DLRNKILTAT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VDNANVLLQI | DNARLAADDF | RTKYETELNL | RMSVEADING | LRRVLDELTL | ARADLEMQIE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLKEELAYLK | KNHEEEMNAL | RGQVGGDVNV | EMDAAPGVDL | SRILNEMRDQ | YEKMAEKNRK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DAEEWFFTKT | EELNREVATN | SELVQSGKSE | ISELRRTMQN | LEIELQSQLS | MKASLENSLE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ETKGRYCMQL | AQIQEMIGSV | EEQLAQLRCE | MEQQNQEYKI | LLDVKTRLEQ | EIATYRRLLE |
| 430 | 440 | 450 | 460 | 470 | |
| GEDAHLSSSQ | FSSGSQSSRD | VTSSSRQIRT | KVMDVHDGKV | VSTHEQVLRT | KN |