Details for Gene FRAS1

GENE NAME FRAS1
CHROMOSOME 4
ENSEMBL ID ENSG00000138759
ENTREZ ID 80144
UNIPROT ACCESSION NUMBER Q86XX4
GO MOLECULAR FUNCTION extracellular matrix structural constituent; metal ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04512
6 combinations linked to FRAS1 OLI602; OLI348; OLI352; OLI350; OLI351; OLI339
7 variants linked to FRAS1 FRAS1:c.7423G>A, p.Glu2475Lys; FRAS1:c.10930C>T, p.Leu3644=; FRAS1:c.7372-24A>G, ; FRAS1:c.8493C>G, p.Phe2831Leu; FRAS1:c.5857-434C>T, ; FRAS1:c.6569C>T, p.Ser2190Phe; FRAS1:c.4367T>C, p.Ile1456Thr
3 diseases linked to FRAS1 Isolated Klippel-Feil syndrome; Disorder of sex development; 46,XY disorder of sex development

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