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 | PALB2 |
Variant | W1164C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 W1164C lies within WD repeat 7 of the Palb2 protein (UniProt.org). W1164C does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 W1164C |
Transcript | NM_024675.4 |
gDNA | chr16:g.23603528C>A |
cDNA | c.3492G>T |
Protein | p.W1164C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23603528C>A | c.3492G>T | p.W1164C | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23603528C>A | c.3492G>T | p.W1164C | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.23603528C>A | c.3492G>T | p.W1164C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 W1164C | unknown |