W4VSQ0 · W4VSQ0_MOUSE
- ProteinAnkyrin 3, epithelial
- GeneAnk3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids291 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3401448975 | 11 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000076.7:g.69621497G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69621497G>C Locations: - p.Glu11Gln (Ensembl:ENSMUST00000182993) - c.31G>C (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389107693 | 13 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69644246T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69644246T>C Locations: - p.Ser13Pro (Ensembl:ENSMUST00000182993) - c.37T>C (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389116294 | 21 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.69644270A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.69644270A>T Locations: - p.Arg21Ter (Ensembl:ENSMUST00000182993) - c.61A>T (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389104814 | 26 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69644285G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69644285G>A Locations: - p.Gly26Arg (Ensembl:ENSMUST00000182993) - c.76G>A (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389097483 | 37 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69644318A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69644318A>T Locations: - p.Asn37Tyr (Ensembl:ENSMUST00000182993) - c.109A>T (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389104576 | 44 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000076.7:g.69644339T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69644339T>A Locations: - p.Cys44Ser (Ensembl:ENSMUST00000182993) - c.130T>A (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389116280 | 66 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69644762G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69644762G>T Locations: - p.Glu66Asp (Ensembl:ENSMUST00000182993) - c.198G>T (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3401557981 | 122 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69651553C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69651553C>T Locations: - p.Ala122Val (Ensembl:ENSMUST00000182993) - c.365C>T (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3401056911 | 124 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69651558G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69651558G>A Locations: - p.Glu124Lys (Ensembl:ENSMUST00000182993) - c.370G>A (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389083118 | 168 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69658106G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69658106G>T Locations: - p.Glu168Asp (Ensembl:ENSMUST00000182993) - c.504G>T (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389048142 | 179 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69658137G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69658137G>C Locations: - p.Ala179Pro (Ensembl:ENSMUST00000182993) - c.535G>C (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389083048 | 179 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69658138C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69658138C>T Locations: - p.Ala179Val (Ensembl:ENSMUST00000182993) - c.536C>T (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389109695 | 183 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69658149G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69658149G>A Locations: - p.Ala183Thr (Ensembl:ENSMUST00000182993) - c.547G>A (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389104834 | 191 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69658174C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69658174C>G Locations: - p.Ala191Gly (Ensembl:ENSMUST00000182993) - c.572C>G (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389104837 | 206 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69658219C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69658219C>T Locations: - p.Ser206Leu (Ensembl:ENSMUST00000182993) - c.617C>T (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389107647 | 214 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69660167A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69660167A>G Locations: - p.His214Arg (Ensembl:ENSMUST00000182993) - c.641A>G (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs3389104641 | 255 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69685979C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69685979C>A Locations: - p.Ala255Glu (Ensembl:ENSMUST00000182993) - c.764C>A (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs265075807 | 274 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000076.7:g.69694051G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69694051G>A Locations: - p.Arg274His (Ensembl:ENSMUST00000182993) - c.821G>A (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs48839353 | 278 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.69694063G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69694063G>C Locations: - p.Gly278Ala (Ensembl:ENSMUST00000182993) - c.833G>C (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: | |||||||
rs234071255 | 289 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000076.7:g.69694095G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.69694095G>A Locations: - p.Val289Ile (Ensembl:ENSMUST00000182993) - c.865G>A (Ensembl:ENSMUST00000182993) Source type: large scale study Cross-references: |