Basic Information

HMCN1

Full name: hemicentin 1

Gene type: protein coding

HGNC ID: HGNC:19194

Gene location: 1q25.3-q31.1

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/83872

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:19194

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_031935.3

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q96RW7

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q96RW7

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/608548

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=83872

Pathway resources

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
HMCN1 AMD-FARMS sample Intron Variant rs743137 A>C / A>T chr1:186023526 (GRCh38.p13)
HMCN1 AMD-FARMS sample Intron Variant rs1475113 G>A / G>C / G>T chr1:185897712 (GRCh38.p13)
HMCN1 AMD-FARMS sample Intron Variant rs721153 T>C / T>G chr1:186133414 (GRCh38.p13)
HMCN1 AMD-FARMS sample Intron Variant rs680638 C>T chr1:186187382 (GRCh38.p13)
HMCN1 AMD Missense Variant rs10911825 A>C / A>G / A>T chr1:186132407 (GRCh38.p13)
HMCN1 AMD Intron Variant rs10911798 G>A chr1:186018020 (GRCh38.p13)
HMCN1 AMD Intron Variant rs16824564 A>G chr1:185843204 (GRCh38.p13)
HMCN1 AMD Intron Variant rs9425349 A>C / A>T chr1:185930322 (GRCh38.p13)
HMCN1 AMD Intron Variant rs6688811 G>A chr1:185972643 (GRCh38.p13)
HMCN1 AMD Intron Variant rs16825040 C>A / C>G / C>T chr1:186182361 (GRCh38.p13)