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Gene | CTNNB1 |
Variant | W383C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CTNNB1 W383C lies within ARM repeat 6 of the Ctnnb1 protein (UniProt.org). W383C has been identified in sequencing studies (PMID: 26416732, PMID: 25021421, PMID: 32592321), 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 W383C |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41233408G>T |
cDNA | c.1149G>T |
Protein | p.W383C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006712985.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_047447483.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
NM_001904.4 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_047447478.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_047447481.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_047447479.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
NM_001098209.2 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_024453356.2 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
NM_001098210.2 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_047447480.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_047447477.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_006712985.2 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
XM_017005738.2 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41233408G>T | c.1149G>T | p.W383C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CTNNB1 W383C | unknown |