Gene Variant Detail

Contact

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@genomenon.com

Gene APC
Variant H1375fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions APC H1375fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1375 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). H1375fs has not been characterized, however, due to the effects of other truncation mutations downstream of H1375 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function.
Associated Drug Resistance
Category Variants Paths

APC mutant APC inact mut APC H1375fs

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.

Transcript NM_000038.6
gDNA chr5:g.(112839716_112839717)
cDNA c.(4123_4122)
Protein p.H1375fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510.2 chr5:g.(112839716_112839717) c.(4123_4122) p.H1375fs RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.(112839716_112839717) c.(4123_4122) p.H1375fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112839716_112839717) c.(4123_4122) p.H1375fs RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.(112839716_112839717) c.(4123_4122) p.H1375fs RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.(112839716_112839717) c.(4123_4122) p.H1375fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112839716_112839717) c.(4123_4122) p.H1375fs RefSeq GRCh38/hg38
NM_000038.6 chr5:g.(112839716_112839717) c.(4123_4122) p.H1375fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112839716_112839717) c.(4123_4122) p.H1375fs RefSeq GRCh38/hg38
NM_000038 chr5:g.(112839716_112839717) c.(4123_4122) p.H1375fs 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries