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Gene | BTK |
Variant | P189A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BTK P189A lies within the SH3 binding site in the TH domain of the Btk protein (PMID: 7657668). P189A abolishes binding between Btk and specific SH3 domain containing proteins, and results in reduced trans-phosphorylation of Btk (PMID: 7657668). |
Associated Drug Resistance | |
Category Variants Paths |
BTK mutant BTK inact mut BTK P189A |
Transcript | NM_000061.3 |
gDNA | chrX:g.101362196G>C |
cDNA | c.565C>G |
Protein | p.P189A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001287345 | chrX:g.101362196G>C | c.565C>G | p.P189A | RefSeq | GRCh38/hg38 |
NM_001287345.2 | chrX:g.101362196G>C | c.565C>G | p.P189A | RefSeq | GRCh38/hg38 |
NM_000061.3 | chrX:g.101362196G>C | c.565C>G | p.P189A | RefSeq | GRCh38/hg38 |
NM_000061 | chrX:g.101362196G>C | c.565C>G | p.P189A | RefSeq | GRCh38/hg38 |
NM_000061.2 | chrX:g.101362196G>C | c.565C>G | p.P189A | RefSeq | GRCh38/hg38 |
NM_001287345.1 | chrX:g.101362196G>C | c.565C>G | p.P189A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BTK P189A | loss of function |