ConVarT

FXYD6, FXYD6-FXYD2 (GeneID: 53826) | Homo sapiens

Description:	FXYD6-FXYD2 readthrough [Source:HGNC Symbol;Acc:HGNC:39978], FXYD domain containing ion transport regulator 6 [Source:HGNC Symbol;Acc:HGNC:4030]
Synonyms:
Other ID(s):	ENSG00000255245, HGNC:4030, ENSG00000137726, HGNC:39978
Protein Accession Numbers:	ENST00000527429, ENST00000584394, ENST00000260282, ENST00000539526, NP_071286, ENST00000524656, ENST00000527717, NP_001158304, ENST00000529335, NP_001230527, ENST00000524841, ENST00000584230, ENST00000526014, ENST00000530956, NP_001158309, ENST00000532984, NP_001158303, NP_001191197, ENST00000540359, NP_001158308
Statistics:	gnomAD(231) COSMIC(250)

gnomAD Variants By Annotation

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Start Lost

Stop Lost

Synonymous Variant

∙ 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.
ENST00000524656 ENST00000524841 ENST00000526014 ENST00000527429 ENST00000527717 ENST00000529335 ENST00000530956 ENST00000539526 ENST00000540359 ENST00000584230 ENST00000584394 NP_001158303 NP_001158304 NP_001158308 NP_001158309 NP_071286 ">ENST00000260282

ClinVar Data

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

Inframe Insertion

Missense Variant

Splice Region Variant

Start Lost

Stop Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
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Showing 0 to 0 of 0 entries

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)

Substitution - Coding Silent

Substitution - Missense

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

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
PF02038	ATP1G1_PLM_MAT8	ATP1G1/PLM/MAT8 family	24-71			Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.785	0.138
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.785	0.138
Acute Myeloid Leukemia, M1	Neoplasms ;	0.785	0.138
Schizophrenia	Mental Disorders ;	0.785	0.138
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.785	0.138
NO RESULT FOUND