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 | G27V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCL G27V does not lie within any known functional domains of the Fancl protein (UniProt.org). G27V has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCL mutant FANCL G27V |
Transcript | NM_018062.4 |
gDNA | chr2:g.58241234C>A |
cDNA | c.80G>T |
Protein | p.G27V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_018062 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532942.3 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_017004414.2 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532940.3 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
NM_001114636 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
NM_001374615.1 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
NM_001114636.1 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_005264395 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_047444852.1 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_017004414 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_005264395.4 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532941.2 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_017004415 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532940.4 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532942.4 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532940 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
NM_018062.3 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_047444854.1 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532941 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
NM_018062.4 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_005264395.5 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532939.3 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532939 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_017004415.2 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
NM_001410792.1 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532942 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_047444853.1 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
NM_001114636.1 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
XM_011532939.4 | chr2:g.58241234C>A | c.80G>T | p.G27V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|