SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name Q14739

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)
Q14739 LBR_HUMAN pelger-huet anomaly p.Pro119Leu
p.Pro569Arg


Q14739 LBR_HUMAN greenberg dysplasia p.Asn547Asp
p.Arg583Gln


Q14739 LBR_HUMAN reynolds syndrome p.Arg372Cys

Q14739 LBR_HUMAN pelger-huet anomaly with mild skeletal anomalies p.Asn547Ser
p.Arg586His