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 | FANCA |
Variant | R1053C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FANCA R1053C does not lie within any known functional domains of the Fanca protein (UniProt.org). R1053C has been identified in sequencing studies (PMID: 28678401, PMID: 32546565), 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 R1053C |
Transcript | NM_000135.4 |
gDNA | chr16:g.89749812G>A |
cDNA | c.3157C>T |
Protein | p.R1053C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001286167.2 | chr16:g.89749812G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
XM_011522947 | chr16:g.89738966G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
XM_011522946.3 | chr16:g.89738966G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
XM_024450189.1 | chr16:g.89738966G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
NM_000135 | chr16:g.89749812G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
XM_005256294 | chr16:g.89749812G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
NM_001286167 | chr16:g.89749812G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
XM_011522947.2 | chr16:g.89738966G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
XM_005256294.4 | chr16:g.89749812G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
NM_000135.4 | chr16:g.89749812G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
NM_000135.3 | chr16:g.89749812G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
XM_011522946 | chr16:g.89738966G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
NM_001286167.3 | chr16:g.89749812G>A | c.3157C>T | p.R1053C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|