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Gene | FANCA |
Variant | P1222L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA P1222L does not lie within any known functional domains of the Fanca protein (UniProt.org). P1222L is predicted to result in decreased flexibility of Fanca protein, potentially disrupting interaction with other proteins in computational models (PMID: 33762291), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA P1222L |
Transcript | NM_000135.4 |
gDNA | chr16:g.89742900G>A |
cDNA | c.3665C>T |
Protein | p.P1222L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.3 | chr16:g.89742900G>A | c.3665C>T | p.P1222L | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89742900G>A | c.3665C>T | p.P1222L | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89742900G>A | c.3665C>T | p.P1222L | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89742900G>A | c.3665C>T | p.P1222L | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89742900G>A | c.3665C>T | p.P1222L | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89742900G>A | c.3665C>T | p.P1222L | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89742900G>A | c.3665C>T | p.P1222L | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89742900G>A | c.3665C>T | p.P1222L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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