Gene Variant Detail

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Gene FANCA
Variant L274P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FANCA L274P does not lie within any known functional domains of the Fanca protein (UniProt.org). L274P results in a loss of Fanca interaction with the Fancb/Fancl complex and leads to defective nuclear localization of Fanca in cell culture (PMID: 16720839).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA inact mut FANCA L274P

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Transcript NM_000135.4
gDNA chr16:g.89799610A>G
cDNA c.821T>C
Protein p.L274P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.2 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
NM_000135 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_017023045 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
NM_001286167 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
NM_001018112.2 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_011522948 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_017023046 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
NM_001018112 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_011522945 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_017023044 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_005256294 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_017023046.1 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
NM_001018112.3 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89799610A>G c.821T>C p.L274P RefSeq GRCh38/hg38

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