SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name Q14839

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)
Q14839 CHD4_HUMAN sifrim-hitz-weiss syndrome p.Ser851Tyr
p.Gly1003Asp
p.Arg1068His
p.Arg1127Gln
p.Trp1148Leu
p.Arg1173Leu
p.Val1608Ile