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Gene | FANCA |
Variant | R683I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA R683I does not lie within any known functional domains of the Fanca protein (UniProt.org). R683I has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FANCA mutant FANCA R683I |
Transcript | NM_000135.4 |
gDNA | chr16:g.89771781C>A |
cDNA | c.2048G>T |
Protein | p.R683I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011522948.2 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
XM_017023044.2 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
XM_011522948 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
XM_017023045.1 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
XM_011522945 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
NM_001286167.2 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
XM_017023044 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
XM_011522945.2 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
XM_017023045 | chr16:g.89771781C>A | c.2048G>T | p.R683I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FANCA R683I | unknown |