Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | FANCA |
Variant | T1328A |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | FANCA T1328A does not lie within any known functional domains of the Fanca protein (UniProt.org). T1328A restores Fancd2 monoubiquitination, confers resistance to mitomycin C-induced cell death and G2/M cell cycle block to levels similar of wild-type protein in FANCA-null cells in culture (PMID: 31586946). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA T1328A |
Transcript | NM_000135.4 |
gDNA | chr16:g.89739506T>C |
cDNA | c.3982A>G |
Protein | p.T1328A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000135.4 | chr16:g.89739506T>C | c.3982A>G | p.T1328A | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89739506T>C | c.3982A>G | p.T1328A | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89739506T>C | c.3982A>G | p.T1328A | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89739506T>C | c.3982A>G | p.T1328A | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89739506T>C | c.3982A>G | p.T1328A | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89739506T>C | c.3982A>G | p.T1328A | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89739506T>C | c.3982A>G | p.T1328A | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89739506T>C | c.3982A>G | p.T1328A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|