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Gene | FANCA |
Variant | R52* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FANCA R52* results in a premature truncation of the Fanca protein at amino acid 52 of 1455 (UniProt.org). R52* has not been characterized, however, due to the effects of other truncation mutations downstream of R52 (PMID: 24349332, PMID: 30057198, PMID: 31586946), is predicted to lead to a loss of Fanca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA inact mut FANCA R52* |
Transcript | NM_000135.4 |
gDNA | chr16:g.89815912G>A |
cDNA | c.154C>T |
Protein | p.R52* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017023044.2 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
XM_017023046.1 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
NM_001018112.2 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
NM_001351830.1 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
NM_001351830.2 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
NM_001018112.3 | chr16:g.89815912G>A | c.154C>T | p.R52* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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