ConVarT

Fxyd6 (GeneID: 63847) | Rattus norvegicus

Description:	FXYD domain-containing ion transport regulator 6 [Source:RGD Symbol;Acc:69315]
Synonyms:	Php
Other ID(s):	ENSRNOG00000016412
Protein Accession Numbers:	XP_008764393, NP_071288
Statistics:	ClinVar(4) gnomAD(105) COSMIC(249)

ClinVar Pathogenicity of Variations

Benign

VUS

∙ 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.
ENST00000260282 ENST00000524656 ENST00000524841 ENST00000526014 ENST00000527429 ENST00000527717 ENST00000529335 ENST00000530956 ENST00000532984 You are here now! ENST00000539526 ENST00000540359 ENST00000584230 ENST00000584394 NP_001191197 NP_001230527 You are here now!

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

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Start Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
11-117691587-T-C	ENST00000532984	p.Gln112Arg	Missense Variant	0	0	0	rs374310766
11-117691589-C-T	ENST00000532984	p.Gly111Gly	Synonymous Variant	2	31314	0.000064	rs766075198
11-117691590-C-A	ENST00000532984	p.Gly111Val	Missense Variant	1	31322	0.000032	rs143620414
11-117691591-C-T	ENST00000532984	p.Gly111Arg	Missense Variant	0	0	0	rs1352923511
11-117691596-A-G	ENST00000532984	p.Leu109Pro	Missense Variant	0	0	0	rs1205701032
11-117691598-C-T	ENST00000532984	p.Pro108Pro	Synonymous Variant	0	0	0	rs755359872
11-117691599-G-A	ENST00000532984	p.Pro108Leu	Missense Variant	1	31264	0.000032	rs200063683
11-117691605-T-C	ENST00000532984	p.Lys106Arg	Missense Variant	0	0	0	rs570509942
11-117691607-C-T	ENST00000532984	p.Gln105Gln	Synonymous Variant	1	31326	0.000032	rs74443383
11-117693395-A-G	ENST00000532984	p.Trp104Arg	Missense Variant	0	0	0	rs776282287
11-117693398-G-A	ENST00000532984	p.Leu103Leu	Synonymous Variant	0	0	0	rs762119604
11-117693403-A-G	ENST00000532984	p.Val101Ala	Missense Variant	30	31310	0.000958	rs150608549
11-117693404-C-T	ENST00000532984	p.Val101Ile	Missense Variant	1	31320	0.000032	rs773683745
11-117693405-G-A	ENST00000532984	p.Pro100Pro	Synonymous Variant	2	31324	0.000064	rs763425417
11-117693406-G-C	ENST00000532984	p.Pro100Arg	Missense Variant	0	0	0	rs1188849840
11-117693407-G-A	ENST00000532984	p.Pro100Ser	Missense Variant	0	0	0	rs766472507
11-117693408-T-A	ENST00000532984	p.Gly99Gly	Synonymous Variant	0	0	0	rs1422229409
11-117693409-C-G	ENST00000532984	p.Gly99Ala	Missense Variant	0	0	0	rs1164864928
11-117693410-C-T	ENST00000532984	p.Gly99Arg	Missense Variant	0	0	0	rs1390825781
11-117693413-G-A	ENST00000532984	p.Arg98Cys	Missense Variant	333	31320	0.010632	rs35705701

Showing 1 to 20 of 105 entries

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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

Substitution - Nonsense

Unknown

Show entries

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
FXYD6-FXYD2	ENST00000532984	TCGA-A3-3346-01	kidney	carcinoma	79514717	c.*1G>A	p.?	Unknown		.63748	Variant of unknown origin	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	J32_T	lung	carcinoma	79514421	c.272+73G>A	p.?	Unknown	NEUTRAL	.01278	Confirmed somatic variant	PMID: N/A	NS
FXYD6-FXYD2	ENST00000532984	PCSI_0082_Pa_P_526	pancreas	carcinoma	79514271	c.-6+5243C>T	p.?	Unknown	NEUTRAL	.00209	Confirmed somatic variant	PMID: N/A	NS
FXYD6-FXYD2	ENST00000532984	RK054_C01	liver	carcinoma	79512675	c.-5-10488G>C	p.?	Unknown	NEUTRAL	.01611	Variant of unknown origin	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	LP6007414-DNA_A02	oesophagus	carcinoma	79513550	c.272+3505C>G	p.?	Unknown	NEUTRAL	.03245	Confirmed somatic variant	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	RK107_C01	liver	carcinoma	79516000	c.272+5711G>A	p.?	Unknown	NEUTRAL	.13074	Variant of unknown origin	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	BRCA-05246_CCPM_0300252-Tumor-SM-9X1N9	breast	carcinoma	79513006	c.311+50A>C	p.?	Unknown	NEUTRAL	.00572	Confirmed somatic variant	PMID: 30531871	primary
FXYD6-FXYD2	ENST00000532984	RK144_C01	liver	carcinoma	79514298	c.-6+7065G>T	p.?	Unknown	NEUTRAL	.087	Confirmed somatic variant	PMID: N/A	NS
FXYD6-FXYD2	ENST00000532984	PD6722a	breast	carcinoma	79514927	c.-6+1448G>C	p.?	Unknown	NEUTRAL	.00238	Confirmed somatic variant	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	TCGA-AR-A256-01	breast	carcinoma	79513344	c.*40+103G>T	p.?	Unknown	NEUTRAL	.02045	Confirmed somatic variant	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	8031544	pancreas	carcinoma	79515969	c.-5-13783G>T	p.?	Unknown	NEUTRAL	.13274	Confirmed somatic variant	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	44_T	lung	carcinoma	79512746	c.222+103G>T	p.?	Unknown	NEUTRAL	.28599	Confirmed somatic variant	PMID: N/A	NS
FXYD6-FXYD2	ENST00000532984	SCLC2_P_LN	lung	carcinoma	79513474	c.272+2365A>G	p.?	Unknown	NEUTRAL	.01484	Confirmed somatic variant	PMID: 30224629	metastasis
FXYD6-FXYD2	ENST00000532984	BD114T	biliary_tract	carcinoma	79514072	c.172+682T>A	p.?	Unknown	NEUTRAL	.05677	Confirmed somatic variant	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	NAN9	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	79515087	c.311+210G>A	p.?	Unknown	NEUTRAL	.22668	Variant of unknown origin	PMID: 30545397	NS
FXYD6-FXYD2	ENST00000532984	LICA-CN-HCC_WGS_016T	liver	other	79514046	c.273-5487C>T	p.?	Unknown	NEUTRAL	.13314	Confirmed somatic variant	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	ML_75_T_01	skin	carcinoma	79513100	c.-6+8185T>G	p.?	Unknown	NEUTRAL	.0015	Confirmed somatic variant	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	60T	liver	other	79514821	c.-6+5134G>A	p.?	Unknown	NEUTRAL	.00839	Confirmed somatic variant	PMID: N/A	primary
FXYD6-FXYD2	ENST00000532984	PCSI_0279_Pa_P_526	pancreas	carcinoma	79514466	c.-6+10692G>A	p.?	Unknown	NEUTRAL	.00076	Confirmed somatic variant	PMID: N/A	NS
FXYD6-FXYD2	ENST00000532984	TCGA-EE-A3JB-06	skin	malignant_melanoma	79516142	c.*40+125G>A	p.?	Unknown	NEUTRAL	.01202	Confirmed somatic variant	PMID: N/A	NS

Showing 1 to 20 of 249 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
PF02038	ATP1G1_PLM_MAT8	ATP1G1/PLM/MAT8 family	25-64			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