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Gene | CTNNB1 |
Variant | R535* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CTNNB1 R535* results in a premature truncation of the Ctnnb1 protein at amino acid 535 of 781 (UniProt.org). R535* has not been characterized however, due to the effects of other truncation mutations downstream of R535 (PMID: 27368802), is predicted to lead to a loss of Ctnnb1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CTNNB1 mutant CTNNB1 inact mut CTNNB1 R535* |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41234217C>T |
cDNA | c.1603C>T |
Protein | p.R535* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024453358.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_047447482.1 | chr3:g.41234238_41234240delCGTinsTGA | c.1603_1605delCGTinsTGA | p.R535* | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001330729.2 | chr3:g.41234238_41234240delCGTinsTGA | c.1603_1605delCGTinsTGA | p.R535* | RefSeq | GRCh38/hg38 |
XM_024453360.1 | chr3:g.41234238_41234240delCGTinsTGA | c.1603_1605delCGTinsTGA | p.R535* | RefSeq | GRCh38/hg38 |
XM_024453359.1 | chr3:g.41234238_41234240delCGTinsTGA | c.1603_1605delCGTinsTGA | p.R535* | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_006712984 | chr3:g.41234238_41234240delCGTinsTGA | c.1603_1605delCGTinsTGA | p.R535* | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001098209 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_006712983 | chr3:g.41234238_41234240delCGTinsTGA | c.1603_1605delCGTinsTGA | p.R535* | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
XM_006712983.2 | chr3:g.41234238_41234240delCGTinsTGA | c.1603_1605delCGTinsTGA | p.R535* | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41234217C>T | c.1603C>T | p.R535* | RefSeq | GRCh38/hg38 |
NM_001330729.1 | chr3:g.41234238_41234240delCGTinsTGA | c.1603_1605delCGTinsTGA | p.R535* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CTNNB1 R535* | loss of function - predicted |