Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1
Variant:p.R889*

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
3 papers
NM_015687.5
p.R889*
c.2665C>T
Surrounding Variants
1 paper
NM_015687.5
p.R889Q
c.2666G>A
1 paper
NM_015687.5
p.P888P
c.2664C>G
1 paper
NM_015687.5
p.T883fs
c.2647_2648fs
1 paper
NM_015687.5
p.T883_H896delFs
c.2649_2688del40
1 paper
NM_015687.5
p.P880L
c.2639C>T
1 paper
NM_015687.5
p.R913Q
c.2738G>A
1 paper
NM_015687.5
p.V852_L853delFs
c.2554_2558del5
1 paper
NM_015687.5
p.V852fs
c.2554_2555fs
1 paper
NM_001289987.3
p.I930_T934del0
c.2789_2800del12
1 paper
NM_015687.5
p.P930_E934del0
c.2789_2800del12
1 paper
NM_015687.5
p.Q840H
c.2520G>T
1 paper
NM_015687.5
p.Q840H
c.2520G>C
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