ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
5-140207677-A-G	ENST00000527624	p.Met1?	Start Lost	0	0	0
5-140207680-G-A	ENST00000527624	p.Val2Met	Missense Variant	0	0	0	rs782318154
5-140207681-T-C	ENST00000527624	p.Val2Ala	Missense Variant	47	31412	0.001496	rs150637034
5-140207688-C-A	ENST00000527624	p.Thr4Thr	Synonymous Variant	0	0	0	rs782158590
5-140207689-C-A	ENST00000527624	p.Pro5Thr	Missense Variant	0	0	0
5-140207690-C-A	ENST00000527624	p.Pro5Gln	Missense Variant	0	0	0	rs782789439
5-140207690-C-T	ENST00000527624	p.Pro5Leu	Missense Variant	0	0	0	rs782789439
5-140207693-A-G	ENST00000527624	p.Glu6Gly	Missense Variant	0	0	0	rs782771063
5-140207695-G-A	ENST00000527624	p.Asp7Asn	Missense Variant	0	0	0	rs375013243
5-140207697-T-A	ENST00000527624	p.Asp7Glu	Missense Variant	0	0	0
5-140207700-A-G	ENST00000527624	p.Arg8Arg	Synonymous Variant	0	0	0	rs782079495
5-140207701-T-C	ENST00000527624	p.Leu9Leu	Synonymous Variant	1	31404	0.000032	rs782741237
5-140207714-G-A	ENST00000527624	p.Cys13Tyr	Missense Variant	0	0	0	rs781796281
5-140207714-G-C	ENST00000527624	p.Cys13Ser	Missense Variant	0	0	0	rs781796281
5-140207723-T-A	ENST00000527624	p.Leu16His	Missense Variant	0	0	0	rs782456632
5-140207726-C-G	ENST00000527624	p.Pro17Arg	Missense Variant	0	0	0	rs782794601
5-140207726-C-T	ENST00000527624	p.Pro17Leu	Missense Variant	0	0	0	rs782794601
5-140207732-T-C	ENST00000527624	p.Leu19Pro	Missense Variant	0	0	0
5-140207736-C-T	ENST00000527624	p.Leu20Leu	Synonymous Variant	0	0	0
5-140207737-C-CT	ENST00000527624	p.Ala22ArgfsTer106	Frameshift Variant	0	0	0	rs782497466

Showing 1 to 20 of 764 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
PCDHA6	Q9UN73	Phosphorylation	143	Y143-p	EEQRVLIyESRLPDS	102.72	9335309
PCDHA6	Q9UN73	Phosphorylation	33	Y33-p	VGSGQLHySVPEEAK	102.72	34367678
PCDHA6	Q9UN73	Phosphorylation	514	S514-p	YISVHAEsGKVYALQ	102.72	56669704
PCDHA6	Q9UN73	Phosphorylation	679	S679-p	SGQAPKAssRASVGA	102.72	23129759
PCDHA6	Q9UN73	Phosphorylation	680	S680-p	GQAPKAssRASVGAA	102.72	23129762
PCDHA6	Q9UN73	Phosphorylation	893	S893-p	DKFIIPGsPAIISIR	102.72	15721778
PCDHA6	Q9UN73	Phosphorylation	904	T904-p	ISIRQEPtNSQIDKS	102.72	25304126

Showing 1 to 7 of 7 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
PCDHA6_ENST00000527624	ENST00000527624	TCGA-G9-6363-01	prostate	carcinoma	79800512	c.1602+33028C>T	p.?	Unknown	NEUTRAL	.08238	Confirmed somatic variant	PMID: N/A	primary	0
PCDHA6_ENST00000527624	ENST00000527624	TCGA-CN-A640-01	upper_aerodigestive_tract	carcinoma	79782851	c.1602+4910C>G	p.?	Unknown	NEUTRAL	.34819	Confirmed somatic variant	PMID: N/A	primary	0
PCDHA6_ENST00000527624	ENST00000527624	TCGA-DA-A1HY-06	skin	malignant_melanoma	79818863	c.1602+13431G>T	p.?	Unknown	NEUTRAL	.01077	Confirmed somatic variant	PMID: N/A	NS	0
PCDHA6_ENST00000527624	ENST00000527624	TCGA-DA-A1HY-06	skin	malignant_melanoma	79818881	c.1603-9936G>A	p.?	Unknown	PATHOGENIC	.72997	Confirmed somatic variant	PMID: N/A	NS	0
PCDHA6_ENST00000527624	ENST00000527624	TCGA-DA-A1HY-06	skin	malignant_melanoma	79811371	c.1883G>A	p.G628E	Substitution - Missense	PATHOGENIC	.83115	Confirmed somatic variant	PMID: N/A	NS	628
PCDHA6_ENST00000527624	ENST00000527624	TCGA-DA-A1HY-06	skin	malignant_melanoma	79818878	c.1603-10627C>T	p.?	Unknown	PATHOGENIC	.73474	Confirmed somatic variant	PMID: N/A	NS	0
PCDHA6_ENST00000527624	ENST00000527624	98216	stomach	carcinoma	79774831	c.1602+27026C>A	p.?	Unknown	NEUTRAL	.24259	Confirmed somatic variant	PMID: 24807215	primary	0
PCDHA6_ENST00000527624	ENST00000527624	S01170_1	lung	carcinoma	79834308	c.1602+28235C>A	p.?	Unknown	NEUTRAL	.06582	Confirmed somatic variant	PMID: 26168399	primary	0
PCDHA6_ENST00000527624	ENST00000527624	8067187	pancreas	carcinoma	79802276	c.1602+54189C>T	p.?	Unknown	NEUTRAL	.23687	Confirmed somatic variant	PMID: N/A	NS	0
PCDHA6_ENST00000527624	ENST00000527624	LUAD-B02216	lung	carcinoma	79820590	c.1602+13203C>T	p.?	Unknown	NEUTRAL	.04801	Variant of unknown origin	PMID: 22980975	primary	0
PCDHA6_ENST00000527624	ENST00000527624	YULLON	skin	malignant_melanoma	79792268	c.1772C>T	p.S591F	Substitution - Missense	PATHOGENIC	.73407	Confirmed somatic variant	PMID: 22842228	NS	591
PCDHA6_ENST00000527624	ENST00000527624	TCGA-DA-A1HY-06	skin	malignant_melanoma	79782252	c.1602+40440G>A	p.?	Unknown	PATHOGENIC	.99755	Confirmed somatic variant	PMID: N/A	NS	0
PCDHA6_ENST00000527624	ENST00000527624	TCGA-DA-A1HY-06	skin	malignant_melanoma	79799437	c.1602+53166G>A	p.?	Unknown	NEUTRAL	.35947	Confirmed somatic variant	PMID: N/A	NS	0
PCDHA6_ENST00000527624	ENST00000527624	LICA-CN-HCC079T	liver	other	79807590	c.1602+13636G>T	p.?	Unknown	PATHOGENIC	.92931	Confirmed somatic variant	PMID: N/A	primary	0
PCDHA6_ENST00000527624	ENST00000527624	LICA-CN-HCC079T	liver	other	79807592	c.1602+20349A>T	p.?	Unknown	NEUTRAL	.15154	Confirmed somatic variant	PMID: N/A	primary	0
PCDHA6_ENST00000527624	ENST00000527624	PD13760a	breast	carcinoma	79791044	c.1602+2277T>A	p.?	Unknown	NEUTRAL	.01014	Confirmed somatic variant	PMID: N/A	NS	0
PCDHA6_ENST00000527624	ENST00000527624	TCGA-51-4079-01	lung	carcinoma	79790646	c.968C>G	p.T323R	Substitution - Missense	NEUTRAL	.06539	Confirmed somatic variant	PMID: N/A	primary	323
PCDHA6_ENST00000527624	ENST00000527624	E7	eye	malignant_melanoma	79835266	c.1602+20402C>G	p.?	Unknown	NEUTRAL	.12873	Confirmed somatic variant	PMID: 23793026	primary	0
PCDHA6_ENST00000527624	ENST00000527624	TCGA-EE-A3AG-06	skin	malignant_melanoma	79803593	c.1602+20197G>A	p.?	Unknown	NEUTRAL	.20632	Confirmed somatic variant	PMID: N/A	NS	0
PCDHA6_ENST00000527624	ENST00000527624	TCGA-EE-A3AG-06	skin	malignant_melanoma	79803607	c.1602+54552G>A	p.?	Unknown	NEUTRAL	.39419	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 5,193 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00028	Cadherin	Cadherin domain	247-341	CL0159	E-set	Homo sapiens
PF00028	Cadherin	Cadherin domain	460-556	CL0159	E-set	Homo sapiens
PF00028	Cadherin	Cadherin domain	577-670	CL0159	E-set	Homo sapiens
PF00028	Cadherin	Cadherin domain	355-446	CL0159	E-set	Homo sapiens
PF00028	Cadherin	Cadherin domain	138-233	CL0159	E-set	Homo sapiens
PF08266	Cadherin_2	Cadherin-like	30-112	CL0159	E-set	Homo sapiens
PF15974	Cadherin_tail	Cadherin C-terminal cytoplasmic tail, catenin-binding region	800-933			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
NO RESULT FOUND
NO RESULT FOUND

Description:	protocadherin alpha 6 [Source:HGNC Symbol;Acc:HGNC:8672]
Synonyms:	CRNR2, CNR2, CNRS2, PCDH-ALPHA6, CNRN2
Other ID(s):	HGNC:8672, ENSG00000081842
Protein Accession Numbers:	NP_061732, ENST00000529310, NP_114037, ENST00000608977, ENST00000527624, NP_114036, ENST00000608670
Statistics:	ClinVar(6) gnomAD(764) COSMIC(5193) PTM(7)

Classification of Clinicial Significance of ClinVar Data