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Gene APC
Variant S2497L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC S2497L lies within a region of the Apc protein necessary for interaction with DLG1 (UniProt.org). S2497L has been identified in sequencing studies (PMID: 24728327), 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 S2497L

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Transcript NM_000038.6
gDNA chr5:g.112843084C>T
cDNA c.7490C>T
Protein p.S2497L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.2 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001407453.1 chr5:g.112843261C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.112843332_112843333delTCinsCT c.7489_7490delTCinsCT p.S2497L RefSeq GRCh38/hg38
NM_001354901.1 chr5:g.112843261C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112843332_112843333delTCinsCT c.7489_7490delTCinsCT p.S2497L RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.112843053_112843054delTCinsCT c.7489_7490delTCinsCT p.S2497L RefSeq GRCh38/hg38
NM_001127510 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_000038 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001407446.1 chr5:g.112842999_112843000delTCinsCT c.7489_7490delTCinsCT p.S2497L RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112843084C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001354901.2 chr5:g.112843261C>T c.7490C>T p.S2497L RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.112843332_112843333delTCinsCT c.7489_7490delTCinsCT p.S2497L RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112843332_112843333delTCinsCT c.7489_7490delTCinsCT p.S2497L RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.112843053_112843054delTCinsCT c.7489_7490delTCinsCT p.S2497L RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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