AiPD: Autoinhibited Protein Database

Q04695

Gene name	KRT17
Protein name	Keratin, type I cytoskeletal 17
Names	39.1, Cytokeratin-17, CK-17, Keratin-17, K17
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3872
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-62 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-62 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q04695

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q04695-F1	Predicted				AlphaFoldDB

442 variants for Q04695

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA216605 VAR_072441 rs28928898 RCV000056507	88	M>K	Pachyonychia congenita 2 (pc2) PC2 [Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA216606 RCV000056508 rs28928898 VAR_010512 RCV000015696	88	M>T	Pachyonychia congenita 2 Pachyonychia congenita 2 (pc2) PC2 and SM [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_072442	91	L>P	PC2 [UniProt]	Yes	UniProt
VAR_003847 RCV000056510 CA216607 rs28928896 RCV000015688	92	N>D	Pachyonychia congenita 2 Pachyonychia congenita 2 (pc2) PC2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_003848 RCV000056509 CA124153 rs28928896 RCV000015691	92	N>H	Steatocystoma multiplex Pachyonychia congenita 2 (pc2) SM [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs59151893 RCV000015689 RCV000056512 CA216610 RCV002496373 RCV001836709 VAR_003849	92	N>S	Pachyonychia congenita 2 Pachyonychia congenita 2 (pc2) PC2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_072443	92	N>del	PC2 [UniProt]	Yes	UniProt
RCV000015697 rs57674130 RCV000056514	94	R>missing	Pachyonychia congenita 2 [ClinVar]	Yes	ClinVar dbSNP
CA124156 rs58730926 RCV000114415 RCV000015694 VAR_010513 COSM436599 RCV000056513	94	R>C	ovary Pachyonychia congenita 2 Variant assessed as Somatic; impact. Steatocystoma multiplex Pachyonychia congenita 2 (pc2) breast PC2 and SM [Cosmic, ClinVar, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD
RCV000114414 RCV002496374 COSM3402893 VAR_003850 RCV000056515 RCV000015692 CA124154 rs28928897	94	R>H	Pachyonychia congenita 2 Variant assessed as Somatic; impact. central_nervous_system Steatocystoma multiplex Pachyonychia congenita 2 (pc2) SM and PC2 [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA216613 RCV000056516 VAR_017068 rs28928897 RCV000015698	94	R>P	Pachyonychia congenita 2 Pachyonychia congenita 2 (pc2) PC2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_017069	94	R>del	PC2 [UniProt]	Yes	UniProt
rs28928899 CA216615 VAR_017071 RCV000056518 RCV000015700	95	L>P	Pachyonychia congenita 2 Pachyonychia congenita 2 (pc2) PC2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs28928899 CA216614 RCV000056517 RCV000015699 VAR_017070	95	L>Q	Pachyonychia congenita 2 Pachyonychia congenita 2 (pc2) PC2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000015701 rs121912478 RCV000255904 RCV002494801	97	S>missing	Pachyonychia congenita 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_017072	97	S>del	PC2 [UniProt]	Yes	UniProt
RCV000056521 CA216620 RCV000015690 rs28933088 VAR_003851	98	Y>D	Pachyonychia congenita 2 Pachyonychia congenita 2 (pc2) PC2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_017073 rs28933089 RCV000056523 CA216623 RCV000015702	99	L>P	Pachyonychia congenita 2 Pachyonychia congenita 2 (pc2) PC2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000056524 CA216624 rs59977263 RCV000015703 VAR_017074	102	V>M	Pachyonychia congenita 2 Pachyonychia congenita 2 (pc2) PC2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs267607412 RCV000056526 VAR_037083 CA216627	109	N>D	PC2 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_072444 rs56690581 RCV000056506 CA216604	388	L>P	PC2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_072445	388	L>R	PC2 [UniProt]	Yes	UniProt
CA399514018 rs1234293016	2	T>N		No	ClinGen gnomAD
CA399514015 rs1219056740	3	T>A		No	ClinGen gnomAD
rs1235064745 CA399514006	4	S>F		No	ClinGen gnomAD
rs11553458 CA399514010	4	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11553458 CA8563887	4	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761633581 CA8563886	5	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1286509362 CA399514002	5	I>N		No	ClinGen gnomAD
rs1286509362 CA399514001	5	I>T		No	ClinGen gnomAD
rs1327072340 CA399514003	5	I>V		No	ClinGen TOPMed gnomAD
CA8563885 rs79896664 RCV000961490	6	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8563884 rs768150902	6	R>H		No	ClinGen ExAC TOPMed gnomAD
rs553672396 CA8563882	7	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8563880 rs769369981	9	T>N		No	ClinGen ExAC
CA399513924 rs1266296732	12	S>G		No	ClinGen TOPMed
rs1177336937 CA399513880	15	K>R		No	ClinGen TOPMed
rs781364097 CA8563878	16	G>A		No	ClinGen ExAC gnomAD
rs781364097 CA399513866	16	G>D		No	ClinGen ExAC gnomAD
rs1409637177 CA399513834	18	S>Y		No	ClinGen gnomAD
CA8563875 rs558623005	19	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558623005 CA8563874	19	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765583417 CA8563872	21	G>A		No	ClinGen ExAC TOPMed gnomAD
rs765583417 CA290686318	21	G>E		No	ClinGen ExAC TOPMed gnomAD
CA399513806 rs1366910575	21	G>R		No	ClinGen gnomAD
rs753167272	22	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs759780535 CA8563871	22	G>D		No	ClinGen ExAC TOPMed gnomAD
CA399513793 rs1387497386	22	G>R		No	ClinGen TOPMed
CA399513766 rs1309344989	23	G>A		No	ClinGen gnomAD
rs753167272	23	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8563866 rs750279151	23	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8563864 rs367544262	24	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1443619298 CA399513735	25	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8563860 rs374384105	26	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8563859 rs745486930	26	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8563858 rs745486930	26	R>L		No	ClinGen ExAC TOPMed gnomAD
CA290686239 rs554504293	27	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554504293 CA8563857	27	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399513709 rs1597693301	27	T>P		No	ClinGen Ensembl
CA8563856 rs371000502	29	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8563852 rs2229512	30	R>P		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA8563853 rs2229512 COSM2157344	30	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP TOPMed gnomAD
CA8563855 rs747613789 COSM3819578	30	R>W	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399513640 rs1295462977	32	S>T		No	ClinGen TOPMed
CA8563849 rs368662815	34	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs758929957 CA8563850	34	G>S		No	ClinGen ExAC TOPMed gnomAD
rs368662815 CA399513600	34	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8563846 rs755266373	36	G>V		No	ClinGen ExAC TOPMed gnomAD
CA399513553 rs1311792391	37	A>D		No	ClinGen TOPMed gnomAD
CA399513551 rs1311792391	37	A>G		No	ClinGen TOPMed gnomAD
CA8563843 rs757015302	38	G>S		No	ClinGen ExAC TOPMed gnomAD
rs764050721 CA8563841	39	S>F		No	ClinGen ExAC TOPMed gnomAD
CA290686210 rs1043719695	39	S>P		No	ClinGen TOPMed
rs375582148 CA8563839	42	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs775031648 CA8563838	44	S>F		No	ClinGen ExAC gnomAD
COSM302513 CA399513418 rs1294947365	47	G>S	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8563836 rs759301828	47	G>V		No	ClinGen ExAC gnomAD
CA399513394 rs1430218782	49	G>R		No	ClinGen gnomAD
CA8563833 rs201047424	51	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399513358 rs1482978208	51	T>N		No	ClinGen TOPMed gnomAD
rs201047424 CA8563834	51	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773659419 CA399513346	52	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8563832 rs773659419	52	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8563830 CA399513326 rs748631498	53	G>R		No	ClinGen ExAC TOPMed gnomAD
rs761469971	54	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs570711033 CA8563829	54	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs754997516 CA8563826	56	S>R		No	ClinGen ExAC TOPMed gnomAD
CA399513226 rs1311238669	57	Y>D		No	ClinGen gnomAD
CA399513182 rs1355547921	58	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399513135 rs200841795	60	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1314250126 CA399513148	60	C>S		No	ClinGen gnomAD
CA8563824 rs200841795	60	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8563823 rs142502852	61	Y>C		No	ClinGen ESP ExAC gnomAD
CA399513104 rs142502852	61	Y>F		No	ClinGen ESP ExAC gnomAD
CA8563822 rs11553455	62	S>C		No	ClinGen ExAC TOPMed gnomAD
CA290686193 rs11553455	62	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1190242046 CA399513077	62	S>I		No	ClinGen TOPMed
CA8563821 rs763856669	62	S>R		No	ClinGen ExAC gnomAD
rs1421493202 CA399513061	63	F>L		No	ClinGen TOPMed
CA290686189 rs765464535	65	S>F		No	ClinGen gnomAD
CA399513011 rs1477627658	66	G>S		No	ClinGen TOPMed
CA8563819 rs752629599	68	G>D		No	ClinGen ExAC gnomAD
TCGA novel	68	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412586091 CA399512944	69	Y>F		No	ClinGen TOPMed
rs1482183368 CA399512934	70	G>S		No	ClinGen gnomAD
CA8563818 rs371521134	71	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399512891 rs1196700871	72	S>G		No	ClinGen gnomAD
CA8563816 rs368097553	74	G>R		No	ClinGen ESP ExAC
rs200102896 CA8563815	74	G>V		No	ClinGen ExAC TOPMed gnomAD
rs760378776 CA8563813	75	G>D		No	ClinGen ExAC gnomAD
CA399512832 rs1294575047	75	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs760378776 CA399512823	75	G>V		No	ClinGen ExAC gnomAD
CA399512815 rs1329150569	76	V>I		No	ClinGen gnomAD
CA399512786 rs1218892088	77	D>G		No	ClinGen TOPMed
rs11553454 CA290686141	78	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs11553454 CA8563811	78	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1028399478 CA290686138	79	L>M		No	ClinGen TOPMed gnomAD
CA399512728 rs1313304776	80	L>P		No	ClinGen TOPMed
rs769139580 CA8563807	81	A>D		No	ClinGen ExAC TOPMed gnomAD
rs769139580 CA8563808	81	A>V		No	ClinGen ExAC TOPMed gnomAD
CA399512680 rs1194441798	83	G>S		No	ClinGen TOPMed
CA399512653 rs1363382784	84	E>G		No	ClinGen gnomAD
rs1421175248 CA399512618	86	A>T		No	ClinGen TOPMed gnomAD
rs1265695783 CA399512589	87	T>I		No	ClinGen gnomAD
rs1205697518 CA399512570	88	M>I		No	ClinGen TOPMed gnomAD
CA8563803 rs746060683	89	Q>H		No	ClinGen ExAC gnomAD
CA399512555 rs1171786524	89	Q>R		No	ClinGen TOPMed
CA399512546 rs1469282035	90	N>H		No	ClinGen gnomAD
RCV000056511 rs267607414	92	N>missing		No	ClinVar dbSNP
rs754891141 CA8563798	96	A>S		No	ClinGen ExAC TOPMed gnomAD
rs267607416 RCV000056519	96	A>missing		No	ClinVar dbSNP
CA399512404 rs1329053108	98	Y>*		No	ClinGen gnomAD
rs267607415 RCV000056522	99	L>missing		No	ClinVar dbSNP
rs765879104 COSM1212794 CA8563796	103	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1396543456 CA399512332	103	R>H		No	ClinGen gnomAD
CA8563795 rs760468628	104	A>T		No	ClinGen ExAC gnomAD
rs1329065160 CA399512302	106	E>K		No	ClinGen TOPMed
RCV000885318 COSM1520958 CA8563794 rs150004075	107	E>K	lung [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA290686013 rs11553460	108	A>T		No	ClinGen Ensembl
CA8563793 rs762272035	111	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1597692917 CA399512160	114	V>G		No	ClinGen Ensembl
CA399512116 rs1455000863	116	I>S		No	ClinGen gnomAD
CA8563790 rs375507162	117	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8563791 rs375507162	117	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs775474574 CA8563789	117	R>H		No	ClinGen ExAC gnomAD
rs1410936135 CA399512069	118	D>E		No	ClinGen gnomAD
rs1567749671 CA399512063	119	W>R		No	ClinGen Ensembl
rs1446995852 CA399511969	122	R>S		No	ClinGen gnomAD
CA290685985 rs879219604	123	Q>P		No	ClinGen Ensembl
rs879219604 CA399511952	123	Q>R		No	ClinGen Ensembl
rs781408687 CA8563788	124	A>D		No	ClinGen ExAC TOPMed gnomAD
rs781408687 CA8563786	124	A>G		No	ClinGen ExAC TOPMed gnomAD
CA290685983 rs371097627	124	A>T		No	ClinGen ESP TOPMed
CA8563787 rs781408687	124	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8563782 rs754908705	125	P>L		No	ClinGen ExAC TOPMed gnomAD
rs754908705 CA8563781	125	P>R		No	ClinGen ExAC TOPMed gnomAD
rs747955715 CA8563783	125	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA399511883 rs1234687849	126	G>R		No	ClinGen TOPMed gnomAD
RCV000996533 CA8563777 rs560097504 COSM1662522	127	P>S	kidney [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8563775 rs541698783	128	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8563774 rs541698783	128	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8563771 rs374327168	129	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8563772 rs374327168	129	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564768263 CA8563770	129	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1400280178 CA399511748	131	Y>H		No	ClinGen TOPMed gnomAD
rs776054687 CA8563769	131	Y>S		No	ClinGen ExAC gnomAD
rs1443634942 CA399511695	133	Q>R		No	ClinGen TOPMed
CA399511583 rs1475360701	137	T>I		No	ClinGen TOPMed gnomAD
CA399511560 rs1243238106	138	I>T		No	ClinGen gnomAD
CA8563765 rs771187547	142	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	142	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399511429 rs1281369645	143	N>K		No	ClinGen TOPMed
CA399511423 rs1211153560	144	K>E		No	ClinGen gnomAD
CA8563736 rs746448136	145	I>F		No	ClinGen ExAC TOPMed gnomAD
CA399509608 rs1176275056	145	I>M		No	ClinGen gnomAD
CA8563735 rs777489530	146	L>F		No	ClinGen ExAC gnomAD
CA8563734 rs757951114	147	T>I		No	ClinGen ExAC TOPMed gnomAD
CA290685512 rs267604879	147	T>P		No	ClinGen Ensembl
CA399509554 rs1336432577	148	A>D		No	ClinGen gnomAD
rs755542251 CA8563731	150	V>M		No	ClinGen ExAC gnomAD
rs1273768738 CA399509498	151	D>H		No	ClinGen TOPMed gnomAD
CA8563729 rs766811684	154	N>S		No	ClinGen ExAC gnomAD
CA8563727 rs750429009	158	Q>*		No	ClinGen ExAC gnomAD
CA8563726 rs191021601	159	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399509307 rs1281608115	159	I>V		No	ClinGen gnomAD
CA8563724 rs185719691	163	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA8563723 rs185719691	163	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs759605871 CA8563722	163	R>H		No	ClinGen ExAC gnomAD
CA399509145 rs1597692050	165	A>V		No	ClinGen Ensembl
CA399509117 rs1157801603	167	D>A		No	ClinGen gnomAD
CA290685500 rs908695920	167	D>E		No	ClinGen TOPMed
CA399509103 rs1400904986	168	D>N		No	ClinGen gnomAD
CA8563720 rs770709739	169	F>C		No	ClinGen ExAC gnomAD
CA8563719 COSM436598 rs115084509 RCV000966029	170	R>C	breast [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs560599599 CA8563718	170	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399509052 rs560599599	170	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8563717 rs771791705	171	T>I		No	ClinGen ExAC gnomAD
CA8563698 rs199897890	173	F>V		No	ClinGen ExAC
rs747593947 CA8563697	174	E>G		No	ClinGen ExAC
CA290685295 rs1034295153	175	T>I		No	ClinGen TOPMed
rs1310615769 CA399508759	176	E>D		No	ClinGen gnomAD
rs778552510 CA8563696	176	E>K		No	ClinGen ExAC gnomAD
rs749685700 CA8563695	178	A>S		No	ClinGen ExAC gnomAD
rs749685700 CA8563694	178	A>T		No	ClinGen ExAC gnomAD
CA399508698 rs1314445903	179	L>P		No	ClinGen gnomAD
rs780251083 CA8563693	180	R>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8563692 rs756693103	180	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780251083 CA399508693	180	R>S		No	ClinGen ExAC TOPMed gnomAD
rs750881227 CA8563691	182	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8563689 rs376395535	183	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA399508602 rs1185955115	184	E>V		No	ClinGen gnomAD
CA8563687 rs751630739	186	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758650944 CA8563685	189	G>V		No	ClinGen ExAC
CA8563683 rs766061597	191	R>C		No	ClinGen ExAC gnomAD
rs746200279 COSM979269 CA8563682	191	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8563681 rs746200279	191	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8563680 rs767434042	192	R>M		No	ClinGen ExAC gnomAD
rs1597691680 CA399508429	193	V>G		No	ClinGen Ensembl
CA8563679 rs761336575	193	V>L		No	ClinGen ExAC gnomAD
CA8563678 rs773812416	196	E>*		No	ClinGen ExAC gnomAD
rs182165448 CA8563677	196	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	197	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399508281 rs1395505727	200	A>V		No	ClinGen gnomAD
CA8563670 rs113335985	203	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs781562194 CA8563672	203	D>N		No	ClinGen ExAC TOPMed gnomAD
CA399508193 rs1597691641	205	E>Q		No	ClinGen Ensembl
CA8563669 rs377416724	206	M>I		No	ClinGen ESP ExAC gnomAD
rs138650610 CA290685217	206	M>T		No	ClinGen ESP TOPMed
CA290685209 rs199795046	208	I>T		No	ClinGen TOPMed gnomAD
CA8563668 rs758738869	211	L>H		No	ClinGen ExAC gnomAD
rs752861612 CA399507976	213	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1443692454 CA399507960	214	E>D		No	ClinGen TOPMed gnomAD
CA8563666 rs765436670	214	E>K		No	ClinGen ExAC gnomAD
CA399507949 rs1271852814	215	L>R		No	ClinGen gnomAD
rs755878402 CA8563665	217	Y>H		No	ClinGen ExAC gnomAD
rs750187235 CA8563664	217	Y>S		No	ClinGen ExAC TOPMed
rs372734202 CA8563663	219	K>R		No	ClinGen ESP ExAC gnomAD
CA399507862 rs1348742456	221	N>D		No	ClinGen TOPMed
CA399507851 rs1236419899	221	N>K		No	ClinGen gnomAD
CA399507830 rs150142591	222	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140804147 CA399507825	223	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140804147 RCV000947822 CA8563661	223	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1446637109 CA399507810	224	E>K		No	ClinGen TOPMed
CA399506453 rs1173463099	225	E>Q		No	ClinGen gnomAD
CA399506417 rs1268334462	226	M>V		No	ClinGen TOPMed
CA8563641 rs147053246	227	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8563639 rs759193608	228	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA290684916 rs979951170	228	A>V		No	ClinGen TOPMed
rs761058018 COSM1493885 CA8563636	230	R>*	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs137961542 CA8563635	230	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs137961542 CA8563634	230	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1126846 CA290684902	231	G>A		No	ClinGen Ensembl
rs1484519975 CA399506257	232	Q>R		No	ClinGen gnomAD
rs748209988 CA8563633	233	V>L		No	ClinGen ExAC gnomAD
rs1346976326 CA399506206	234	G>S		No	ClinGen gnomAD
CA399506196 rs1269356031	235	G>C		No	ClinGen gnomAD
CA8563631 rs768810878	236	E>D		No	ClinGen ExAC gnomAD
CA399506183 rs1417594265	236	E>K		No	ClinGen TOPMed
TCGA novel	237	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437160406 CA399506104	238	N>S		No	ClinGen TOPMed gnomAD
rs749514229 CA8563629	241	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8563628 rs781032798	242	D>H		No	ClinGen ExAC gnomAD
CA8563626 rs751296003	243	A>T		No	ClinGen ExAC gnomAD
rs758313483 CA8563624	245	P>R		No	ClinGen ExAC gnomAD
CA399505932 rs1427803696	245	P>S		No	ClinGen gnomAD
CA8563622 rs141092585	247	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs759164750 CA8563621	248	D>E		No	ClinGen ExAC TOPMed gnomAD
CA399505885 rs1195277775	248	D>N		No	ClinGen TOPMed gnomAD
CA8563619 rs766075355	250	S>T		No	ClinGen ExAC gnomAD
COSM1662521 CA8563618 rs139367104	251	R>C	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8563617 COSM1179123 rs773674040	251	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773674040 CA399505750	251	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773674040 CA399505756	251	R>P		No	ClinGen ExAC TOPMed gnomAD
rs772497230 CA8563616	252	I>V		No	ClinGen ExAC TOPMed gnomAD
rs762362263 CA8563615	254	N>Y		No	ClinGen ExAC gnomAD
rs1292924721 CA399505638	255	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA399505637 rs1292924721	255	E>Q		No	ClinGen TOPMed gnomAD
CA8563613 rs768777699	256	M>I		No	ClinGen ExAC gnomAD
rs1449130313 CA399505614	256	M>L		No	ClinGen TOPMed gnomAD
COSM186810 CA8563612 rs368091501	257	R>C	Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA290684840 rs368091501	257	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200256057 CA290684838	257	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs767853340 CA8563611	259	Q>K		No	ClinGen ExAC gnomAD
rs769952554 CA8563610	260	Y>C		No	ClinGen ExAC gnomAD
rs1397885600 CA399505544	260	Y>H		No	ClinGen gnomAD
rs146900210 CA8563609 RCV000977423	262	K>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs777510870 CA8563608	264	A>S		No	ClinGen ExAC gnomAD
CA8563607 rs758314670	264	A>V		No	ClinGen ExAC gnomAD
rs560576342 CA8563605	268	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1161191 rs753353264 CA8563603	268	R>H	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8563604 rs753353264	268	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766163349 CA8563602	269	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8563601 rs755801047 COSM3819575	271	A>V	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767912889 CA8563599 COSM436597	272	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781660845 CA8563598	274	W>*		No	ClinGen ExAC gnomAD
CA399505159 rs1412487515	277	S>I		No	ClinGen TOPMed
CA399504931 rs1171580393	279	T>R		No	ClinGen gnomAD
CA399504933 rs1381928510	279	T>S		No	ClinGen gnomAD
rs1191794775 CA399504809	284	R>C		No	ClinGen TOPMed gnomAD
CA8563574 rs376512226	284	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8563573 rs376512226	284	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA399504782 rs1488767038	285	E>D		No	ClinGen gnomAD
CA399504797 rs1215312325	285	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA399504755 rs1288557793	287	A>T		No	ClinGen gnomAD
CA399504737 rs1272978963	288	T>A		No	ClinGen Ensembl
CA399504727 rs1206902207	289	N>D		No	ClinGen TOPMed
rs1254934719 CA399504706	290	S>R		No	ClinGen TOPMed
CA399504649 rs1232590489	292	L>P		No	ClinGen TOPMed gnomAD
rs376654012 CA8563571	294	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8563570 rs748010574	295	S>T		No	ClinGen ExAC gnomAD
CA8563569 rs773987443	296	G>S		No	ClinGen ExAC gnomAD
CA8563568 rs768766243	298	S>I		No	ClinGen ExAC gnomAD
CA399504592 rs749226489	298	S>R		No	ClinGen ExAC gnomAD
CA8563566 rs142893574	301	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8563564 rs745317353	304	R>Q		No	ClinGen ExAC gnomAD
COSM1679805 rs1433893038 CA399504524	304	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs375243255 CA8563563	305	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1426722207 CA399504510	305	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	305	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375243255 CA399504516	305	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310147764 CA399504481	307	M>T		No	ClinGen TOPMed
rs1417435075 CA399504461	308	Q>R		No	ClinGen gnomAD
rs1400257867 CA399504448	309	A>D		No	ClinGen TOPMed
CA399504430 rs1334550673	310	L>F		No	ClinGen TOPMed
CA290684600 rs987888005	313	E>V		No	ClinGen TOPMed
CA399504375 rs1478246116	314	L>V		No	ClinGen gnomAD
rs756819379 CA8563562	315	Q>*		No	ClinGen ExAC gnomAD
rs145738125 CA8563561	315	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	318	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399504276 rs1212848724	320	M>T		No	ClinGen gnomAD
CA8563549 rs149778356	322	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775583363 CA8563547	323	S>P		No	ClinGen ExAC gnomAD
rs1319823227 CA399504192	327	N>S		No	ClinGen TOPMed
COSM1578733 rs780535087 CA8563544	329	A>V	meninges [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399504166 rs1448988534	331	T>I		No	ClinGen gnomAD
rs1597690541 CA399504154	333	N>T		No	ClinGen Ensembl
CA8563541 rs146280868	334	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA290684486 rs755435069	334	R>H		No	ClinGen Ensembl
rs535587265 CA8563540	335	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752997574 CA8563539	336	C>F		No	ClinGen ExAC gnomAD
rs1369304509 CA399504138	336	C>S		No	ClinGen gnomAD
rs752997574 CA399504134	336	C>Y		No	ClinGen ExAC gnomAD
COSM1383218 CA8563537 rs143477910	337	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs749862409 CA8563536	338	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8563535 rs766359801	341	Q>R		No	ClinGen ExAC gnomAD
CA399504061 rs1356545892	342	I>M		No	ClinGen gnomAD
CA8563533 rs750616688	344	G>E		No	ClinGen ExAC gnomAD
rs1465734933 CA399504024	345	L>P		No	ClinGen TOPMed
CA399504012 rs1303101349	346	I>T		No	ClinGen gnomAD
rs775385085 CA8563530	349	V>E		No	ClinGen ExAC gnomAD
rs142267571 CA8563531	349	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1432627748 CA399503946	351	E>K		No	ClinGen TOPMed
CA399503934 rs1199879004	351	E>V		No	ClinGen TOPMed
rs1597690489 CA399503928	352	Q>*		No	ClinGen Ensembl
rs1368753632 CA399503896	354	A>S		No	ClinGen gnomAD
rs139939142 CA8563528	354	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs759367552 CA8563527	355	Q>R		No	ClinGen ExAC
rs374932182 CA8563526 COSM1520960	357	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8563525 rs770339581	357	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA290684422 rs746458554	358	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1158140967 CA399503846	358	C>R		No	ClinGen TOPMed
rs756477246 CA8563523	359	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756477246 CA290684415	359	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA399503800 rs1380052098	360	M>T		No	ClinGen gnomAD
rs1442044157 CA399503762	362	Q>R		No	ClinGen gnomAD
rs1393829898 CA399503737	364	N>H		No	ClinGen gnomAD
TCGA novel	365	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8563521 rs748554846	366	E>K		No	ClinGen ExAC gnomAD
CA8563522 rs748554846	366	E>Q		No	ClinGen ExAC gnomAD
rs1451677193 CA399503667	367	Y>H		No	ClinGen gnomAD
CA399503591 rs1417435474 COSM1630189	371	L>M	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA216602 rs267607413 RCV000056505	371	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA8563520 rs371775733	374	K>R		No	ClinGen ESP ExAC gnomAD
rs199906402 CA8563519	375	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3742233 rs150564761 CA8563516	376	R>Q	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs200744890 CA8563517	376	R>W	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs376826218 CA8563515	378	E>D		No	ClinGen ESP ExAC gnomAD
rs1232538010 CA399503426	378	E>V		No	ClinGen gnomAD
CA399503401 rs1303560668	379	Q>L		No	ClinGen gnomAD
CA399503339 rs1202779941	382	A>G		No	ClinGen gnomAD
rs1360166116 CA399503349	382	A>T		No	ClinGen gnomAD
CA8563514 rs368177544	385	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs757519907 COSM1212796 CA8563513	385	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8563512 rs752588997	386	R>C		No	ClinGen ExAC TOPMed gnomAD
CA399503277 COSM1212795 rs1330476715	386	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1210438233 CA399503197	390	G>E		No	ClinGen TOPMed
CA399503205 rs1378842447	390	G>R		No	ClinGen TOPMed gnomAD
rs1263489642 CA399503125	392	D>E		No	ClinGen gnomAD
rs760121926 CA8563508	392	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1471724677 CA399503133	392	D>V		No	ClinGen TOPMed
rs760121926 CA8563507	392	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs772680772 CA8563506	393	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1277740028 CA399503081	394	H>Y		No	ClinGen gnomAD
rs141710767 CA8563471	397	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA399502843 rs141710767	397	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs573316872 CA8563470	400	K>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	401	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774656236	402	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8563469 rs367560898	402	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8563433 rs748122047	402	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8563468 rs367560898	402	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs768826277 CA8563431	403	V>A		No	ClinGen ExAC gnomAD
CA399500673 rs745704126	404	T>I		No	ClinGen ExAC gnomAD
CA8563430 rs745704126	404	T>N		No	ClinGen ExAC gnomAD
CA399500677 rs745704126	404	T>S		No	ClinGen ExAC gnomAD
rs757242553 CA8563428	405	T>S		No	ClinGen ExAC gnomAD
CA8563426 rs777503614	406	R>C		No	ClinGen ExAC TOPMed gnomAD
rs777503614 CA8563427	406	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8563425 rs757939264	406	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757939264 CA399500608	406	R>L		No	ClinGen ExAC TOPMed gnomAD
rs752095092 CA399500605	407	Q>*		No	ClinGen ExAC gnomAD
rs752095092 CA8563424	407	Q>E		No	ClinGen ExAC gnomAD
CA8563423 rs200282135	407	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA399500546 rs1261318850	408	V>A		No	ClinGen gnomAD
CA8563422 rs754643287	409	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA399500533 rs754643287	409	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8563421 rs754301737	409	R>H		No	ClinGen ExAC TOPMed gnomAD
CA399500492 rs766848922	410	T>I		No	ClinGen ExAC gnomAD
rs766848922 CA8563420	410	T>N		No	ClinGen ExAC gnomAD
rs773785522 CA8563418	413	E>K		No	ClinGen ExAC gnomAD
TCGA novel	414	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399500335 rs1220477241	415	V>F		No	ClinGen gnomAD
rs1358765445 CA399500315	416	Q>*		No	ClinGen TOPMed
CA399500269 rs1337890050	418	G>C		No	ClinGen gnomAD
CA8563414 rs768916198	424	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8563412 RCV000903034 rs148013099 COSM3771356	424	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8563413 rs148013099	424	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1176808154 CA399500119	425	E>G		No	ClinGen gnomAD
CA399500125 rs1420781470	425	E>K		No	ClinGen TOPMed
CA399500071 rs1421659364	426	Q>H		No	ClinGen gnomAD
CA399500051 rs1163205387	427	V>A		No	ClinGen gnomAD
CA399500060 rs1170221471	427	V>F		No	ClinGen TOPMed gnomAD
CA399500031 rs1478296843	428	H>Q		No	ClinGen gnomAD
CA290683660 rs4079061	428	H>R		No	ClinGen Ensembl
CA8563408 rs758225003	429	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA399499993 rs1597689694	430	T>P		No	ClinGen Ensembl
rs1391829698 CA399499953	431	T>N		No	ClinGen gnomAD
CA8563406 rs369304694 COSM300190	432	R>C	lung large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA8563407 rs369304694	432	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754747437 CA8563405	432	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369304694 CA399499944	432	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	433	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

3 associated diseases with Q04695

[MIM: 167210]: Pachyonychia congenita 2 (PC2)

An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth. {ECO:0000269|PubMed:10571744, ECO:0000269|PubMed:11348474, ECO:0000269|PubMed:11874497, ECO:0000269|PubMed:11886499, ECO:0000269|PubMed:15102078, ECO:0000269|PubMed:15795125, ECO:0000269|PubMed:16250206, ECO:0000269|PubMed:16620218, ECO:0000269|PubMed:16625196, ECO:0000269|PubMed:17719747, ECO:0000269|PubMed:18547302, ECO:0000269|PubMed:19470054, ECO:0000269|PubMed:21326300, ECO:0000269|PubMed:23278621, ECO:0000269|PubMed:23855588, ECO:0000269|PubMed:7539673, ECO:0000269|PubMed:9008238, ECO:0000269|PubMed:9767294}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 184500]: Steatocystoma multiplex (SM)

Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. {ECO:0000269|PubMed:16620218, ECO:0000269|PubMed:9008238, ECO:0000269|PubMed:9767294}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth. {ECO:0000269|PubMed:10571744, ECO:0000269|PubMed:11348474, ECO:0000269|PubMed:11874497, ECO:0000269|PubMed:11886499, ECO:0000269|PubMed:15102078, ECO:0000269|PubMed:15795125, ECO:0000269|PubMed:16250206, ECO:0000269|PubMed:16620218, ECO:0000269|PubMed:16625196, ECO:0000269|PubMed:17719747, ECO:0000269|PubMed:18547302, ECO:0000269|PubMed:19470054, ECO:0000269|PubMed:21326300, ECO:0000269|PubMed:23278621, ECO:0000269|PubMed:23855588, ECO:0000269|PubMed:7539673, ECO:0000269|PubMed:9008238, ECO:0000269|PubMed:9767294}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease characterized by round or oval cystic tumors widely distributed on the back, anterior trunk, arms, scrotum, and thighs. {ECO:0000269|PubMed:16620218, ECO:0000269|PubMed:9008238, ECO:0000269|PubMed:9767294}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q04695

Type	Name	Position	InterPro Accession
conserved_site	Intermediate filament protein, conserved site	381 - 389	IPR018039
domain	Intermediate filament, rod domain	83 - 395	IPR039008

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cornified envelope	A type of plasma membrane that has been modified through addition of distinct intracellular and extracellular components, including ceramide, found in cornifying epithelial cells (corneocytes).
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.
intermediate filament cytoskeleton	Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell.
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.

1 GO annotations of molecular function

Name	Definition
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.

7 GO annotations of biological process

Name	Definition
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 follicle morphogenesis	The process in which the anatomical structures of the hair follicle are generated and organized.
intermediate filament organization	Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
keratinization	The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of hair follicle development	Any process that activates or increases the frequency, rate or extent of hair follicle development.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P02533	KRT14	Keratin, type I cytoskeletal 14	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
Q9QWL7	Krt17	Keratin, type I cytoskeletal 17	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTTSIRQFTS	SSSIKGSSGL	GGGSSRTSCR	LSGGLGAGSC	RLGSAGGLGS	TLGGSSYSSC
70	80	90	100	110	120
YSFGSGGGYG	SSFGGVDGLL	AGGEKATMQN	LNDRLASYLD	KVRALEEANT	ELEVKIRDWY
130	140	150	160	170	180
QRQAPGPARD	YSQYYRTIEE	LQNKILTATV	DNANILLQID	NARLAADDFR	TKFETEQALR
190	200	210	220	230	240
LSVEADINGL	RRVLDELTLA	RADLEMQIEN	LKEELAYLKK	NHEEEMNALR	GQVGGEINVE
250	260	270	280	290	300
MDAAPGVDLS	RILNEMRDQY	EKMAEKNRKD	AEDWFFSKTE	ELNREVATNS	ELVQSGKSEI
310	320	330	340	350	360
SELRRTMQAL	EIELQSQLSM	KASLEGNLAE	TENRYCVQLS	QIQGLIGSVE	EQLAQLRCEM
370	380	390	400	410	420
EQQNQEYKIL	LDVKTRLEQE	IATYRRLLEG	EDAHLTQYKK	EPVTTRQVRT	IVEEVQDGKV
430
ISSREQVHQT	TR