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