Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | BRIP1 |
Variant | S407G |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BRIP1 S407G lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). S407G rescues mitomycin-induced DNA cross-linking damage similar to wild-type Brip1 in cell culture (PMID: 31822495), and therefore, is predicted to have no effect on Brip1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 S407G |
Transcript | NM_032043.3 |
gDNA | chr17:g.61799221T>C |
cDNA | c.1219A>G |
Protein | p.S407G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011525337.2 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525333.4 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525339 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525341 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436903.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525334.2 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525334 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_017025202 | chr17:g.61683972_61683973delGAinsCC | c.1219_1220delTCinsGG | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436893.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525332 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_017025203 | chr17:g.61683972_61683973delGAinsCC | c.1219_1220delTCinsGG | p.S407G | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525340.3 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436895.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436894.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525333 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525340.4 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436904.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436897.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525332.3 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525339.4 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525336.2 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436902.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525336.3 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525340 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525341.4 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_017025203.1 | chr17:g.61683972_61683973delTCinsGG | c.1219_1220delTCinsGG | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525339.3 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_047436901.1 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525336 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525332.4 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525337 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_017025202.1 | chr17:g.61683972_61683973delTCinsGG | c.1219_1220delTCinsGG | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525333.3 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525334.3 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
XM_011525341.3 | chr17:g.61799221T>C | c.1219A>G | p.S407G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|