SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name Q5H8C1

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q5H8C1 FREM1_HUMAN bifid nose, with or without anorectal and renal anomalies p.Arg649Trp
p.Gly1440Ser


Q5H8C1 FREM1_HUMAN manitoba oculotrichoanal syndrome p.Asp102Gly
p.Leu1324Arg
p.Val2091Ile



Q5H8C1 FREM1_HUMAN trigonocephaly 2 p.Arg498Gln
p.Glu1500Val