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Gene FANCA
Variant L946P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCA L946P does not lie within any known functional domains of the Fanca protein (UniProt.org). L946P confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA L946P

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Transcript NM_000135.4
gDNA chr16:g.89761964A>G
cDNA c.2837T>C
Protein p.L946P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.2 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
XM_005256294 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
XM_017023045 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
XM_011522945 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
NM_000135 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
NM_001286167 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
XM_017023044 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89761964A>G c.2837T>C p.L946P RefSeq GRCh38/hg38

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