Basic Information

ARMS2

Full name: age-related maculopathy susceptibility 2

Gene type: protein coding

HGNC ID: HGNC:32685

Gene location: 10q26.13

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/387715

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:32685

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_001099667.3

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P0C7Q2

AlphaFold: https://alphafold.ebi.ac.uk/entry/P0C7Q2

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/611313

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=387715

Pathway resources

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
ARMS2 Missense Variant rs10490923 G>A chr10:122454735 (GRCh38.p13)
ARMS2 Stop Gained rs2736911 C>A / C>T chr10:122454839 (GRCh38.p13)
ARMS2 Missense Variant rs10490924 G>C / G>T chr10:122454932 (GRCh38.p13)
ARMS2 AMD Intron Variant rs2736912 C>T chr10:122456078 (GRCh38.p13)
ARMS2 AMD Intron Variant rs3750846 T>C chr10:122456049 (GRCh38.p13)
ARMS2 AMD 2KB Upstream Variant rs61871746 T>C / T>G chr10:122453397 (GRCh38.p13)
ARMS2 AMD 2KB Upstream Variant rs61871747 C>A / C>T chr10:122453530 (GRCh38.p13)
ARMS2 AMD Intron Variant rs36212731 G>A / G>T chr10:122455460 (GRCh38.p13)
ARMS2 AMD Intron Variant rs36212732 A>G chr10:122455682 (GRCh38.p13)
ARMS2 AMD Intron Variant rs36212733 T>A / T>C / T>G chr10:122455695 (GRCh38.p13)
ARMS2 AMD Intron Variant rs3750848 T>G chr10:122455799 (GRCh38.p13)
ARMS2 AMD Intron Variant rs3750847 C>T chr10:122455905 (GRCh38.p13)
ARMS2 AMD Intron Variant rs17623531 C>T chr10:122455405 (GRCh38.p13)
ARMS2 AMD A124205188G G>A
ARMS2 AMD Intron Variant rs10664316 insA / insAC chr10:122456869-122456870 (GRCh38.p13)
ARMS2 3 Prime UTR Variant rs4752698 T>G chr10:122457306 (GRCh38.p13)
ARMS2 3 Prime UTR Variant rs2672602 T>C chr10:122457309 (GRCh38.p13)
ARMS2 Exudative AMD rs36213074 Intron1
ARMS2 Exudative AMD rs7088128 Intron1
ARMS2 Exudative AMD N/A rs11412729 Intron1