FANCA M717I
Gene Variant Detail

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Gene FANCA
Variant M717I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA M717I does not lie within any known functional domains of the Fanca protein (UniProt.org). M717I has been identified in the scientific literature (PMID: 10094191, PMID: 28423517, PMID: 27882345), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA M717I

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Transcript NM_000135.4
gDNA chr16:g.89771678C>G
cDNA c.2151G>C
Protein p.M717I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.3 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_005256294 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
NM_001286167 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
NM_000135 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_011522948 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_011522945 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_017023044 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_017023045 chr16:g.89771678C>G c.2151G>C p.M717I RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89771678C>G c.2151G>C p.M717I 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