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Gene APC
Variant Q1930Nfs*40
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions APC Q1930Nfs*40 indicates a shift in the reading frame starting at amino acid 1930 and terminating 40 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). Q1930Nfs*40 has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC Q1930Nfs*40

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Transcript NM_000038.6
gDNA chr5:g.112841382delC
cDNA c.5788delC
Protein p.Q1930Nfs*40
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510.2 chr5:g.112841382delC c.5788delC p.Q1930Nfs*40 RefSeq GRCh38/hg38
NM_001407472.1 chr5:g.(112842534_112842656) c.(5788_5910) p.Q1930Nfs*40 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112841382delC c.5788delC p.Q1930Nfs*40 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112841382delC c.5788delC p.Q1930Nfs*40 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112841382delC c.5788delC p.Q1930Nfs*40 RefSeq GRCh38/hg38
NM_001407471.1 chr5:g.(112842534_112842656) c.(5788_5910) p.Q1930Nfs*40 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112841382delC c.5788delC p.Q1930Nfs*40 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112841382delC c.5788delC p.Q1930Nfs*40 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112841382delC c.5788delC p.Q1930Nfs*40 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.
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Molecular Profile Protein Effect Treatment Approaches
APC Q1930Nfs*40 unknown