GENETIC ENCYCLOPEDIA
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gene: PNPLA2

id57104
symbolPNPLA2
organismHomo sapiens
full namepatatin like phospholipase domain containing 2
summaryThis gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
variant-disease

NM_020376.4(PNPLA2):c.584C>T (p.Pro195Leu) AND Neutral lipid storage disease with myopathy

NM_020376.4(PNPLA2):c.467del (p.Pro156fs) AND Neutral lipid storage disease with myopathy

NM_020376.4(PNPLA2):c.543del (p.Ile182fs) AND Neutral lipid storage disease with myopathy

NM_020376.4(PNPLA2):c.369C>T (p.Asp123=) AND not specified

NM_020376.4(PNPLA2):c.696+15G>A AND not specified

... 179 more


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