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Gene | FANCA |
Variant | E1015* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCA E1015* results in a premature truncation of the Fanca protein at amino acid 1015 of 1455 (UniProt.org). E1015* has not been characterized, however, due to the effects of other truncation mutations downstream of E1015 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA E1015* |
Transcript | NM_000135.4 |
gDNA | chr16:g.89752161C>A |
cDNA | c.3043G>T |
Protein | p.E1015* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001286167.2 | chr16:g.89752161C>A | c.3043G>T | p.E1015* | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89752161C>A | c.3043G>T | p.E1015* | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89752161C>A | c.3043G>T | p.E1015* | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89752161C>A | c.3043G>T | p.E1015* | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89752161C>A | c.3043G>T | p.E1015* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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