FANCL Q18*
Gene Variant Detail

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Gene FANCL
Variant Q18*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions FANCL Q18* results in a premature truncation of the Fancl protein at aa 18 of 375 (UniProt.org). Due to the loss of the PHD domain (PMID: 21229326), Q18* is predicted to lead to a loss of Fancl protein function.
Associated Drug Resistance
Category Variants Paths

FANCL mutant FANCL inact mut FANCL Q18*

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Transcript NM_018062.4
gDNA chr2:g.58241262G>A
cDNA c.52C>T
Protein p.Q18*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532939.3 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_017004415.2 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_011532942.4 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_018062.3 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001410792.1 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_011532940.3 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_005264395.4 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_011532941.2 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001374615.1 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_047444852.1 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_017004414.2 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001114636.1 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_018062.4 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_011532942.3 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
NM_001114636.1 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_047444854.1 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_005264395.5 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_047444853.1 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_011532939.4 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38
XM_011532940.4 chr2:g.58241262G>A c.52C>T p.Q18* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References