ConVarT

Pcdha6 (GeneID: 12937) | Mus musculus

Description:	protocadherin alpha 6 [Source:MGI Symbol;Acc:MGI:1298367]
Synonyms:	CNR, Crnr2, Cnr2
Other ID(s):	ENSMUSG00000103707, MGI:1298367
Protein Accession Numbers:	NP_031793
Statistics:	PTM(7)

Post translational modifications (PTM) by Type

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000527624 ENST00000529310 ENST00000608670 ENST00000608977 NP_061732 NP_114036 You are here now! NP_114037

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

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

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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)

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

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

Classification of Clinicial Significance of ClinVar Data