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Gene | BRIP1 |
Variant | R173C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRIP1 R173C lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R173C results in impaired nuclear translocation in cultured cells (PMID: 12569564), but has not been fully biochemically characterized and therefore, its effect on Brip1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 R173C |
Transcript | NM_032043.3 |
gDNA | chr17:g.61847211G>A |
cDNA | c.517C>T |
Protein | p.R173C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |