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 | FANCL |
Variant | T367I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL T367I does not lie within any known functional domains of the Fancl protein (UniProt.org). T367I has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL T367I |
Transcript | NM_018062.4 |
gDNA | chr2:g.58159793G>A |
cDNA | c.1100C>T |
Protein | p.T367I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532939.3 | chr2:g.58160160G>A | c.1100C>T | p.T367I | RefSeq | GRCh38/hg38 |
XM_011532939.4 | chr2:g.58160160G>A | c.1100C>T | p.T367I | RefSeq | GRCh38/hg38 |
XM_011532941 | chr2:g.58160160G>A | c.1100C>T | p.T367I | RefSeq | GRCh38/hg38 |
NM_018062 | chr2:g.58159793G>A | c.1100C>T | p.T367I | RefSeq | GRCh38/hg38 |
XM_011532939 | chr2:g.58160160G>A | c.1100C>T | p.T367I | RefSeq | GRCh38/hg38 |
XM_011532941.2 | chr2:g.58160160G>A | c.1100C>T | p.T367I | RefSeq | GRCh38/hg38 |
NM_001410792.1 | chr2:g.58160160G>A | c.1100C>T | p.T367I | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58159793G>A | c.1100C>T | p.T367I | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58159793G>A | c.1100C>T | p.T367I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|