GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: FILIP1

id27145
symbolFILIP1
organismHomo sapiens
full namefilamin A interacting protein 1
summaryThis gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]
variant-disease

NM_015687.5(FILIP1):c.923C>T (p.Ser308Leu) AND Abnormality of neuronal migration

NM_015687.5(FILIP1):c.3316G>C (p.Gly1106Arg) AND Abnormality of neuronal migration

NM_015687.5(FILIP1):c.1483A>G (p.Lys495Glu) AND Abnormality of neuronal migration

GRCh37/hg19 6q14.1(chr6:76136268-76160830)x1 AND not provided

GRCh37/hg19 6q13-14.1(chr6:75889207-76522602)x3 AND See cases

... 9 more


Partner site screenshot sites on site-shot.com.