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Gene | BTK |
Variant | R307K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BTK R307K lies within the SH2 domain of the Btk protein (PMID: 9524119). R307K confers a loss of Btk function, as indicated by inability to enhance calcium signaling (PMID: 9524119) and decreased phosphorylation of BAP-135 in cell culture (PMID: 9012831). |
Associated Drug Resistance | |
Category Variants Paths |
BTK mutant BTK inact mut BTK R307K |
Transcript | NM_000061.3 |
gDNA | chrX:g.101358671C>T |
cDNA | c.920G>A |
Protein | p.R307K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000061.3 | chrX:g.101358671C>T | c.920G>A | p.R307K | RefSeq | GRCh38/hg38 |
NM_001287345 | chrX:g.101358671C>T | c.920G>A | p.R307K | RefSeq | GRCh38/hg38 |
NM_000061.2 | chrX:g.101358671C>T | c.920G>A | p.R307K | RefSeq | GRCh38/hg38 |
NM_001287345.1 | chrX:g.101358671C>T | c.920G>A | p.R307K | RefSeq | GRCh38/hg38 |
NM_001287345.2 | chrX:g.101358671C>T | c.920G>A | p.R307K | RefSeq | GRCh38/hg38 |
NM_000061 | chrX:g.101358671C>T | c.920G>A | p.R307K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BTK R307K | loss of function |