Gene Variant Detail

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Gene APC
Variant R230C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC R230C lies within a coiled-coil domain of the Apc protein (UniProt.org). R230C has been identified in sequencing studies (PMID: 26343386, PMID: 27149842, PMID: 22185227), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC R230C

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Transcript NM_000038.6
gDNA chr5:g.112792488C>T
cDNA c.688C>T
Protein p.R230C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407450.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_000038 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001354903.2 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001354903.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001407448.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.112792458_112792460delAGAinsTGT c.688_690delAGAinsTGT p.R230C RefSeq GRCh38/hg38
NM_001407449.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001127510 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001407446.1 chr5:g.112792458_112792460delAGAinsTGT c.688_690delAGAinsTGT p.R230C RefSeq GRCh38/hg38
NM_001354902.1 chr5:g.112792458_112792460delAGAinsTGT c.688_690delAGAinsTGT p.R230C RefSeq GRCh38/hg38
NM_001354896.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.112792458_112792460delAGAinsTGT c.688_690delAGAinsTGT p.R230C RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001354902.2 chr5:g.112792458_112792460delAGAinsTGT c.688_690delAGAinsTGT p.R230C RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001407447.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001407459.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001407460.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001354896.2 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.112792488C>T c.688C>T p.R230C RefSeq GRCh38/hg38
NM_001407458.1 chr5:g.112792488C>T c.688C>T p.R230C 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