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Gene | FANCA |
Variant | L185I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA L185I does not lie within any known functional domains of the Fanca protein (UniProt.org). L185I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA L185I |
Transcript | NM_000135.4 |
gDNA | chr16:g.89808337G>T |
cDNA | c.553C>A |
Protein | p.L185I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005256294.4 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_001018112.3 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_001018112.2 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_017023046 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_001351830.1 | chr16:g.89805340G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_001018112 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_011522948.2 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
NM_001351830.2 | chr16:g.89805340G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_017023046.1 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89808337G>T | c.553C>A | p.L185I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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