Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1
Variant:p.S587F

FILIP1

83 papers

RefSeq Summary

This 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 funct...

Pfam Domains

CortBP2aa 74–256UCSCCortactin-binding protein-2

Gene Aliases

HGNC Name

filamin A interacting protein 1

HGNC Alias Symbol

KIAA1275

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015687.5
p.S587F
c.1760C>T
Surrounding Variants
1 paper
NM_015687.5
p.E605D
c.1815A>T
1 paper
NM_015687.5
p.E605D
c.1815A>C
1 paper
NM_015687.5
p.R616Q
c.1847G>A
1 paper
NM_015687.5
p.D542D
c.1626T>C
1 paper
NM_015687.5
p.I636insFs
c.1906_1907ins11
1 paper
NM_015687.5
p.G538E
c.1613G>A
1 paper
NM_015687.5
p.E637A
c.1910A>C
1 paper
NM_015687.5
p.G528E
c.1583G>A
1 paper
NM_015687.5
p.R668I
c.2003G>T
1 paper
NM_015687.5
p.V506M
c.1516G>A
1 paper
NM_015687.5
p.L501V
c.1501T>G
1 paper
NM_015687.5
p.H686N
c.2056C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."