Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1

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
1–12 of 112 variants
3 papers
NM_015687.5
p.R57*
c.169C>T
3 papers
NM_015687.5
p.E155*
c.463G>T
3 papers
NM_015687.5
p.R718*
c.2152C>T
3 papers
NM_015687.5
p.R889*
c.2665C>T
2 papers
NM_015687.5
p.L282F
c.844C>T
2 papers
NM_015687.5
p.R386C
c.1156C>T
2 papers
NM_015687.5
p.T1126M
c.3377C>T
2 papers
NM_015687.5
p.R1159H
c.3476G>A
1 paper
NM_015687.5
p.S3P
c.7T>C
1 paper
NM_015687.5
p.S3S
c.9T>G
1 paper
NM_015687.5
p.R4Q
c.11G>A
1 paper
NM_015687.5
p.G25G
c.75C>A
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."