Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1
Variant:p.R709K

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.R709K
c.2126G>A
Surrounding Variants
1 paper
NM_015687.5
p.R709_F710insFs
c.2127_2128insGG
1 paper
NM_015687.5
p.E713*
c.2137G>T
3 papers
NM_015687.5
p.R718*
c.2152C>T
1 paper
NM_015687.5
p.V699V
c.2097T>G
1 paper
NM_015687.5
p.H686N
c.2056C>A
1 paper
NM_015687.5
p.D747E
c.2241T>G
1 paper
NM_015687.5
p.D747E
c.2241T>A
1 paper
NM_015687.5
p.R668I
c.2003G>T
1 paper
NM_015687.5
p.E757K
c.2269G>A
1 paper
NM_015687.5
p.R781C
c.2341C>T
1 paper
NM_015687.5
p.E637A
c.1910A>C
1 paper
NM_015687.5
p.I636insFs
c.1906_1907ins11
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