ConVarT

AQP9 (GeneID: 366) | Homo sapiens

Description:	aquaporin 9 [Source:HGNC Symbol;Acc:HGNC:643]
Synonyms:	T17287, AQP-9, SSC1, HsT17287
Other ID(s):	HGNC:643, ENSG00000103569
Protein Accession Numbers:	ENST00000219919, NP_066190, ENST00000558772, NP_001307565, ENST00000536493, NP_001307564
Statistics:

∙ 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.
ENST00000219919 ENST00000536493 ENST00000558772 NP_001307564 You are here now! NP_001307565 NP_066190

ClinVar Data

Show entries

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

gnomAD

Show entries

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

Showing 0 to 0 of 0 entries

PreviousNext

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
leukemia	Neoplasms ;	0.63	0.586
Leukemia, Myelocytic, Acute	Neoplasms ;	0.63	0.586
Acute Promyelocytic Leukemia	Neoplasms ;	0.63	0.586
Acute Myeloid Leukemia, M1	Neoplasms ;	0.63	0.586
Juvenile-Onset Still Disease	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.63	0.586
Arsenic Poisoning, Inorganic	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Nervous System, Organic Arsenic Poisoning	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Arsenic Poisoning	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Arsenic Encephalopathy	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Arsenic Induced Polyneuropathy	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.63	0.586
Juvenile arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.63	0.586
Juvenile psoriatic arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.63	0.586
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data