A0A140LJC1 · A0A140LJC1_MOUSE
- ProteinPro-neuregulin-1, membrane-bound isoform
- GeneNrg1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids640 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3398902373 | 26 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000074.7:g.32499062G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32499062G>C Locations: - p.Pro26Ala (Ensembl:ENSMUST00000208205) - c.76C>G (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388970945 | 28 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000074.7:g.32499055T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32499055T>C Locations: - p.Glu28Gly (Ensembl:ENSMUST00000208205) - c.83A>G (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3398906858 | 60 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32458134G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32458134G>T Locations: - p.Ser60Arg (Ensembl:ENSMUST00000208205) - c.180C>A (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3398971200 | 63 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.32458125G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.32458125G>C Locations: - p.Tyr63Ter (Ensembl:ENSMUST00000208205) - c.189C>G (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3398902332 | 63 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.32458126_32458127insCCTC Codon: TAC/TGAGGAC Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.32458126_32458127insCCTC Locations: - p.Tyr63Ter (Ensembl:ENSMUST00000208205) - c.187_188insGAGG (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs32565713 | 86 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000074.7:g.32458058C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32458058C>T Locations: - p.Val86Ile (Ensembl:ENSMUST00000208205) - c.256G>A (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs46517584 | 134 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000074.7:g.32439994G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32439994G>C Locations: - p.Asp134Glu (Ensembl:ENSMUST00000208205) - c.402C>G (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388949542 | 146 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000074.7:g.32439960G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32439960G>A Locations: - p.Pro146Ser (Ensembl:ENSMUST00000208205) - c.436C>T (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388932092 | 192 | N>S | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.32339395_32339396insACCTCAACCATCAC Codon: AAT/AGTGATGGTTGAGGTAT Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.32339395_32339396insACCTCAACCATCAC Locations: - p.Asn192SerfsTer4 (Ensembl:ENSMUST00000208205) - c.574_575insGTGATGGTTGAGGT (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388975953 | 200 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32339371T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32339371T>A Locations: - p.Lys200Met (Ensembl:ENSMUST00000208205) - c.599A>T (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388979575 | 262 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000074.7:g.32316299A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32316299A>G Locations: - p.Val262Ala (Ensembl:ENSMUST00000208205) - c.785T>C (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388975921 | 269 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32314596T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32314596T>C Locations: - p.Lys269Arg (Ensembl:ENSMUST00000208205) - c.806A>G (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388949525 | 283 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32314554C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32314554C>G Locations: - p.Arg283Pro (Ensembl:ENSMUST00000208205) - c.848G>C (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388966458 | 285 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.32314549C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.32314549C>A Locations: - p.Glu285Ter (Ensembl:ENSMUST00000208205) - c.853G>T (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388979348 | 286 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32314545C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32314545C>G Locations: - p.Arg286Pro (Ensembl:ENSMUST00000208205) - c.857G>C (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388975969 | 307 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32314482T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32314482T>A Locations: - p.Gln307Leu (Ensembl:ENSMUST00000208205) - c.920A>T (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388979824 | 333 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32312318G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32312318G>T Locations: - p.Ser333Tyr (Ensembl:ENSMUST00000208205) - c.998C>A (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3398893166 | 353 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32312259G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32312259G>A Locations: - p.His353Tyr (Ensembl:ENSMUST00000208205) - c.1057C>T (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388979288 | 361 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32311457C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32311457C>T Locations: - p.Glu361Lys (Ensembl:ENSMUST00000208205) - c.1081G>A (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388932108 | 407 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32311319G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32311319G>A Locations: - p.His407Tyr (Ensembl:ENSMUST00000208205) - c.1219C>T (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388966433 | 422 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32311273T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32311273T>G Locations: - p.Glu422Ala (Ensembl:ENSMUST00000208205) - c.1265A>C (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388960575 | 424 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32308709A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308709A>G Locations: - p.Tyr424His (Ensembl:ENSMUST00000208205) - c.1270T>C (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388970893 | 437 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000074.7:g.32308670C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308670C>T Locations: - p.Val437Ile (Ensembl:ENSMUST00000208205) - c.1309G>A (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388975899 | 439 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32308663A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308663A>T Locations: - p.Phe439Tyr (Ensembl:ENSMUST00000208205) - c.1316T>A (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388979590 | 449 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32308633G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308633G>A Locations: - p.Pro449Leu (Ensembl:ENSMUST00000208205) - c.1346C>T (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388932042 | 480 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32308540A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308540A>G Locations: - p.Leu480Pro (Ensembl:ENSMUST00000208205) - c.1439T>C (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388975936 | 486 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32308523G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308523G>C Locations: - p.Leu486Val (Ensembl:ENSMUST00000208205) - c.1456C>G (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388982908 | 524 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32308408T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308408T>C Locations: - p.Glu524Gly (Ensembl:ENSMUST00000208205) - c.1571A>G (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388949454 | 546 | R>E | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.32308344_32308345insAAACTCCACACTACCTCAACCATCACTCA Codon: CGG/CGTGAGTGATGGTTGAGGTAGTGTGGAGTTTG Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308344_32308345insAAACTCCACACTACCTCAACCATCACTCA Locations: - p.Arg546GlufsTer2 (Ensembl:ENSMUST00000208205) - c.1634_1635insTGAGTGATGGTTGAGGTAGTGTGGAGTTT (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388979831 | 546 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32308343G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308343G>A Locations: - p.Arg546Trp (Ensembl:ENSMUST00000208205) - c.1636C>T (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs3388954997 | 594 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32308199G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308199G>T Locations: - p.Pro594Thr (Ensembl:ENSMUST00000208205) - c.1780C>A (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs32629018 | 619 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.32308124A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308124A>T Locations: - p.Ser619Thr (Ensembl:ENSMUST00000208205) - c.1855T>A (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: | |||||||
rs32559738 | 624 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000074.7:g.32308109A>T Codon: TTA/ATA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.32308109A>T Locations: - p.Leu624Ile (Ensembl:ENSMUST00000208205) - c.1870T>A (Ensembl:ENSMUST00000208205) Source type: large scale study Cross-references: |