Basic Information
POLR1C
Full name: RNA polymerase I and III subunit C
Gene type: protein coding
HGNC ID: HGNC:20194
Gene location: 6p21.1
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/9533
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:20194
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_203290.4
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/O15160
AlphaFold: https://alphafold.ebi.ac.uk/entry/O15160
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa03020+9533
Variant resources
Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
---|---|---|---|---|---|
POLR1C | AMD Hyperreflective Foci(+)vs(-) | Intron Variant | rs943080 | C>A / C>G / C>T | chr6:43858890 (GRCh38.p13) |
POLR1C | Dominant analysis-wet AMD | Intron Variant | rs833060 | G>C / G>T | chr6:43767412 (GRCh38.p13) |
POLR1C | VA improvement after anti-VEGF | Intron Variant | rs699946 | A>G | chr6:43764932 (GRCh38.p13) |