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Gene FANCA
Variant L1075P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA L1075P lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). L1075P has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA L1075P

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Transcript NM_000135.4
gDNA chr16:g.89749745A>G
cDNA c.3224T>C
Protein p.L1075P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.2 chr16:g.89749745A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
NM_001286167.3 chr16:g.89749745A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89749745A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89749745A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
XM_011522946 chr16:g.89738899A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
NM_000135 chr16:g.89749745A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89749745A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
XM_011522947.2 chr16:g.89738899A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
XM_011522947 chr16:g.89738899A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
XM_024450189.1 chr16:g.89738899A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
NM_001286167 chr16:g.89749745A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
XM_005256294 chr16:g.89749745A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38
XM_011522946.3 chr16:g.89738899A>G c.3224T>C p.L1075P RefSeq GRCh38/hg38

Filtering

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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