Basic Information

SERPINF1

Full name: serpin family F member 1

Gene type: protein coding

HGNC ID: HGNC:8824

Gene location: 17p13.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/5176

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:8824

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_002615.7

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P36955

AlphaFold: https://alphafold.ebi.ac.uk/entry/P36955

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/172860

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=5176

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04310+5176

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
SERPINF1 FUNCTIONAL RESPONSE Intron Variant rs12603486 G>A / G>C / G>T chr17:1764430 (GRCh38.p13)
SERPINF1 ANATOMICAL RESPONSE Missense Variant rs1136287 C>T chr17:1769982 (GRCh38.p13)
SERPINF1 AMD 2KB Upstream Variant rs12150053 T>A / T>C chr17:1761175 (GRCh38.p13)
SERPINF1 AMD 2KB Upstream Variant rs12948385 G>A / G>C chr17:1761607 (GRCh38.p13)
SERPINF1 AMD Non Coding Transcript Variant rs9913583 C>A chr17:1762036 (GRCh38.p13)
SERPINF1 Intron Variant rs11658342 G>A / G>C chr17:1769810 (GRCh38.p13)
SERPINF1 Intron Variant rs1894286 C>T chr17:1773615 (GRCh38.p13)
SERPINF1 Intron Variant rs2269344 G>A / G>C / G>T chr17:1774962 (GRCh38.p13)
SERPINF1 Intron Variant rs9889773 A>C / A>G chr17:1777024 (GRCh38.p13)