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| Gene | BTK |
| Variant | S51N |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BTK S51N lies within the PH domain of the Btk protein (UniProt.org). S51N has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
BTK mutant BTK S51N |
| Transcript | NM_000061.3 |
| gDNA | chrX:g.101374624C>T |
| cDNA | c.152G>A |
| Protein | p.S51N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000061.2 | chrX:g.101374624C>T | c.152G>A | p.S51N | RefSeq | GRCh38/hg38 |
| NM_001287345 | chrX:g.101374624C>T | c.152G>A | p.S51N | RefSeq | GRCh38/hg38 |
| NM_000061 | chrX:g.101374624C>T | c.152G>A | p.S51N | RefSeq | GRCh38/hg38 |
| NM_001287345.1 | chrX:g.101374624C>T | c.152G>A | p.S51N | RefSeq | GRCh38/hg38 |
| NM_001287345.2 | chrX:g.101374624C>T | c.152G>A | p.S51N | RefSeq | GRCh38/hg38 |
| NM_000061.3 | chrX:g.101374624C>T | c.152G>A | p.S51N | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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