Q3UMB5 · SMCR8_MOUSE
- ProteinGuanine nucleotide exchange protein SMCR8
- GeneSmcr8
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids935 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389134694 | 2 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60668857A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60668857A>G Locations: - p.Ile2Val (Ensembl:ENSMUST00000056907) - c.4A>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389151193 | 69 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60669058C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669058C>A Locations: - p.Pro69Thr (Ensembl:ENSMUST00000056907) - c.205C>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3402401727 | 81 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000077.7:g.60669094G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669094G>C Locations: - p.Val81Leu (Ensembl:ENSMUST00000056907) - c.241G>C (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389134753 | 93 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60669130C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669130C>T Locations: - p.Arg93Trp (Ensembl:ENSMUST00000056907) - c.277C>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389161556 | 105 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60669166G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669166G>T Locations: - p.Gly105Cys (Ensembl:ENSMUST00000056907) - c.313G>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389162793 | 109 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60669178G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669178G>A Locations: - p.Gly109Ser (Ensembl:ENSMUST00000056907) - c.325G>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389126673 | 118 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60669205G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669205G>A Locations: - p.Val118Met (Ensembl:ENSMUST00000056907) - c.352G>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs229286223 | 267 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: NC_000077.7:g.60669654G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669654G>T Locations: - p.Gln267His (Ensembl:ENSMUST00000056907) - c.801G>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs26957248 | 291 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000077.7:g.60669724G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669724G>A Locations: - p.Ala291Thr (Ensembl:ENSMUST00000056907) - c.871G>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389164960 | 304 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60669763C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669763C>A Locations: - p.Pro304Thr (Ensembl:ENSMUST00000056907) - c.910C>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389166070 | 329 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000077.7:g.60669839A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669839A>G Locations: - p.Glu329Gly (Ensembl:ENSMUST00000056907) - c.986A>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389177172 | 346 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.60669889A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669889A>T Locations: - p.Arg346Ter (Ensembl:ENSMUST00000056907) - c.1036A>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs26957247 | 360 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.60669932T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60669932T>C Locations: - p.Val360Ala (Ensembl:ENSMUST00000056907) - c.1079T>C (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389157693 | 426 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000077.7:g.60670129A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670129A>C Locations: - p.Ile426Leu (Ensembl:ENSMUST00000056907) - c.1276A>C (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389157757 | 433 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.24) Somatic: No Accession: NC_000077.7:g.60670151G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670151G>A Locations: - p.Gly433Asp (Ensembl:ENSMUST00000056907) - c.1298G>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs26957246 | 434 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000077.7:g.60670153G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670153G>A Locations: - p.Asp434Asn (Ensembl:ENSMUST00000056907) - c.1300G>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389161521 | 463 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60670241G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670241G>A Locations: - p.Gly463Glu (Ensembl:ENSMUST00000056907) - c.1388G>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389171294 | 515 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000077.7:g.60670396A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670396A>G Locations: - p.Ser515Gly (Ensembl:ENSMUST00000056907) - c.1543A>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3402276744 | 524 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000077.7:g.60670423T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670423T>C Locations: - p.Ser524Pro (Ensembl:ENSMUST00000056907) - c.1570T>C (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389126611 | 530 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.60670443T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670443T>A Locations: - p.Asp530Glu (Ensembl:ENSMUST00000056907) - c.1590T>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389161494 | 606 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000077.7:g.60670670A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670670A>G Locations: - p.Glu606Gly (Ensembl:ENSMUST00000056907) - c.1817A>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs48813547 | 616 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.99) Somatic: No Accession: NC_000077.7:g.60670699C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670699C>A Locations: - p.Arg616Ser (Ensembl:ENSMUST00000056907) - c.1846C>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389177189 | 640 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.88) Somatic: No Accession: NC_000077.7:g.60670773C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670773C>G Locations: - p.Asn640Lys (Ensembl:ENSMUST00000056907) - c.1920C>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389151202 | 645 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000077.7:g.60670786T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670786T>A Locations: - p.Phe645Ile (Ensembl:ENSMUST00000056907) - c.1933T>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389151161 | 646 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000077.7:g.60670790C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670790C>A Locations: - p.Pro646Gln (Ensembl:ENSMUST00000056907) - c.1937C>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3402356753 | 648 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000077.7:g.60670795T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670795T>C Locations: - p.Tyr648His (Ensembl:ENSMUST00000056907) - c.1942T>C (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3401706022 | 649 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000077.7:g.60670798G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670798G>A Locations: - p.Glu649Lys (Ensembl:ENSMUST00000056907) - c.1945G>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389157672 | 660 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.60670833T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670833T>A Locations: - p.Asp660Glu (Ensembl:ENSMUST00000056907) - c.1980T>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389157678 | 664 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000077.7:g.60670845G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670845G>C Locations: - p.Met664Ile (Ensembl:ENSMUST00000056907) - c.1992G>C (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs26957243 | 679 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000077.7:g.60670889C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670889C>T Locations: - p.Ala679Val (Ensembl:ENSMUST00000056907) - c.2036C>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389157769 | 680 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000077.7:g.60670892C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670892C>G Locations: - p.Ala680Gly (Ensembl:ENSMUST00000056907) - c.2039C>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3548635533 | 698 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.60670945G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670945G>T Locations: - p.Glu698Ter (Ensembl:ENSMUST00000056907) - c.2092G>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3548938854 | 698 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000077.7:g.60670946A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670946A>T Locations: - p.Glu698Val (Ensembl:ENSMUST00000056907) - c.2093A>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389177185 | 710 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.60670982A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60670982A>G Locations: - p.Lys710Arg (Ensembl:ENSMUST00000056907) - c.2129A>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389161504 | 742 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60671077A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60671077A>T Locations: - p.Arg742Trp (Ensembl:ENSMUST00000056907) - c.2224A>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389138777 | 746 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000077.7:g.60671090C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60671090C>A Locations: - p.Thr746Asn (Ensembl:ENSMUST00000056907) - c.2237C>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389164996 | 786 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000077.7:g.60674581G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674581G>T Locations: - p.Val786Leu (Ensembl:ENSMUST00000056907) - c.2356G>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3402378438 | 800 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60674623C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674623C>T Locations: - p.Arg800Cys (Ensembl:ENSMUST00000056907) - c.2398C>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3402300186 | 810 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000077.7:g.60674654T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674654T>G Locations: - p.Leu810Arg (Ensembl:ENSMUST00000056907) - c.2429T>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389134669 | 813 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60674663A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674663A>T Locations: - p.Lys813Met (Ensembl:ENSMUST00000056907) - c.2438A>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3401072759 | 836 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000077.7:g.60674732A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674732A>G Locations: - p.Lys836Arg (Ensembl:ENSMUST00000056907) - c.2507A>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389162587 | 873 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000077.7:g.60674843A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674843A>G Locations: - p.Glu873Gly (Ensembl:ENSMUST00000056907) - c.2618A>G (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389165000 | 881 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.60674866A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674866A>T Locations: - p.Arg881Ter (Ensembl:ENSMUST00000056907) - c.2641A>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389173428 | 895 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.60674908G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674908G>C Locations: - p.Glu895Gln (Ensembl:ENSMUST00000056907) - c.2683G>C (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389173417 | 897 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000077.7:g.60674915T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674915T>A Locations: - p.Ile897Asn (Ensembl:ENSMUST00000056907) - c.2690T>A (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: | |||||||
rs3389151171 | 913 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.60674962C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.60674962C>T Locations: - p.Gln913Ter (Ensembl:ENSMUST00000056907) - c.2737C>T (Ensembl:ENSMUST00000056907) Source type: large scale study Cross-references: |