Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1
Variant:p.Q806H

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.Q806H
c.2418A>T
Surrounding Variants
1 paper
NM_015687.5
p.Q806H
c.2418A>C
1 paper
NM_015687.5
p.G812C
c.2434G>T
1 paper
NM_015687.5
p.R781C
c.2341C>T
1 paper
NM_015687.5
p.H833N
c.2497C>A
1 paper
NM_015687.5
p.Q840H
c.2520G>T
1 paper
NM_015687.5
p.Q840H
c.2520G>C
1 paper
NM_015687.5
p.V852fs
c.2554_2555fs
1 paper
NM_015687.5
p.V852_L853delFs
c.2554_2558del5
1 paper
NM_015687.5
p.E757K
c.2269G>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.P880L
c.2639C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."