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Variants (13)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 4415 | A682G ALA682GLY,A677G,ALA677GLY | NC_000007.14:g.148809375G>C,NC_000007.13:g.148506467G>C,ENST00000320356.7:c.2045C>G,NM_004456.5:c.2045C>G,NP_004447.2:p.Ala682Gly,ENSP00000320147.2:p.Ala682Gly | missense_variant |
| 4414 | A692V A687V,ALA692VAL,ALA687VAL | NC_000007.14:g.148809345G>A,NC_000007.13:g.148506437G>A,ENST00000320356.7:c.2075C>T,NM_004456.5:c.2075C>T,ENSP00000320147.2:p.Ala692Val,NP_004447.2:p.Ala692Val | missense_variant |
| 3737 | Activating Mutation | ||
| 257 | Intron 6 Mutation RS3757441 | NC_000007.14:g.148827660C=,NC_000007.13:g.148524752C=,ENST00000320356.7:c.626-394G=,ENSP00000320147.2:n.626-394G=,NM_004456.5:c.626-394G=,NP_004447.2:n.626-394G= | intron_variant |
| 163 | Mutation | protein_altering_variant | |
| 291 | Overexpression | ||
| 165 | Y646 Y641,TYR646 | protein_altering_variant | |
| 3607 | Y646C TYR646CYS,Y641C,TYR641CYS | NC_000007.14:g.148811635T>C,NC_000007.13:g.148508727T>C,ENST00000320356.7:c.1937A>G,ENSP00000320147.2:p.Tyr646Cys,NM_004456.5:c.1937A>G,NP_004447.2:p.Tyr646Cys | missense_variant |
| 2989 | Y646F Y641F,TYR641PHE,TYR646PHE | ENST00000320356.7:c.1937A>T,NC_000007.14:g.148811635T>A,NC_000007.13:g.148508727T>A,ENSP00000320147.2:p.Tyr646Phe,ENST00000460911.5:c.1922A>T,ENSP00000419711.1:p.Tyr641Phe,NM_004456.5:c.1937A>T,NP_004447.2:p.Tyr646Phe,NM_001203247.2:c.1922A>T,NP_001190176.1:p.Tyr641Phe | missense_variant |
| 3364 | Y646H Y641H,TYR641HIS,TYR646HIS | NC_000007.14:g.148811636A>G,NC_000007.13:g.148508728A>G,ENSP00000320147.2:p.Tyr646His,ENST00000460911.5:c.1921T>C,ENSP00000419711.1:p.Tyr641His,NM_004456.5:c.1936T>C,NP_004447.2:p.Tyr646His,NM_001203247.2:c.1921T>C,NP_001190176.1:p.Tyr641His,ENST00000320356.7:c.1936T>C | missense_variant |
| 4090 | Y646N Y641N,TYR646ASN,TYR641ASN | NC_000007.14:g.148811636A>T,NC_000007.13:g.148508728A>T,ENST00000320356.7:c.1936T>A,ENSP00000320147.2:p.Tyr646Asn,NM_004456.5:c.1936T>A,NP_004447.2:p.Tyr646Asn,NM_001203247.2:c.1921T>A,NP_001190176.1:p.Tyr641Asn,ENST00000460911.5:c.1921T>A,ENSP00000419711.1:p.Tyr641Asn | missense_variant |
| 2666 | Y646S Y641S,TYR641SER,TYR646SER | NC_000007.14:g.148811635,NC_000007.13:g.148508727,ENST00000320356.7:c.1937A>C,ENSP00000320147.2:p.Tyr646Ser,NM_004456.5:c.1937A>C,NP_004447.2:p.Tyr646Ser | missense_variant |
| 4416 | expression |