BRIP1 I504fs
Gene Variant Detail

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Gene BRIP1
Variant I504fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 I504fs results in a change in the amino acid sequence of the Brip1 protein beginning at aa 504 of 1249, likely resulting in premature truncation of the functional protein (UniProt.org). I504fs has not been characterized, however, due to the effects of other truncation mutations downstream of I504 (PMID: 18628483), is predicted to lead to a loss of Brip1 protein function.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 I504fs

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Transcript NM_032043.3
gDNA chr17:g.(61784388_61784389)
cDNA c.(1510_1509)
Protein p.I504fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525333 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436902.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525333.3 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525334 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525332.4 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525334.3 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525339.4 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525334.2 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436903.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525336.3 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
NM_032043.3 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525336.2 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525337.2 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525340.3 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525341 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525333.4 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525337 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525341.4 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525332 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525340 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525339 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525340.4 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525332.3 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
NM_032043 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525341.3 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525336 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436895.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436904.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525335 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_011525339.3 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436893.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
NM_032043.2 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436894.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.(61784388_61784389) c.(1510_1509) p.I504fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References