Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CTNNB1 |
Variant | V22_S33del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CTNNB1 V22_S33del results in the deletion of 12 amino acids in the ubiquitination recognition motif of the Ctnnb1 protein from amino acids 22 to 33 (UniProt.org). V22_S33del has been identified in sequencing studies (PMID: 11309340), but has not been biochemically characterized and therefore, its effect on Ctnnb1 protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 V22_S33del |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224577_41224612del36 |
cDNA | c.65_100del36 |
Protein | p.V22_S33del12 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047447480.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
XM_047447482.1 | chr3:g.41224597_41224632del36 | c.64_99del36 | p.S22_T33del12 | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
NM_001330729.2 | chr3:g.41224597_41224632del36 | c.64_99del36 | p.S22_T33del12 | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del12 | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224577_41224612del36 | c.65_100del36 | p.V22_S33del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|