Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1
Variant:p.S72F

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.S72F
c.215C>T
Surrounding Variants
1 paper
NM_015687.5
p.L83_L84insFs
c.248_251dup4
1 paper
NM_015687.5
p.K60*
c.178A>T
1 paper
NM_015687.5
p.S85fs
c.253_254fs
3 papers
NM_015687.5
p.R57*
c.169C>T
1 paper
NM_015687.5
p.D48N
c.142G>A
1 paper
NM_015687.5
p.E46A
c.137A>C
1 paper
NM_015687.5
p.G25G
c.75C>A
1 paper
NM_015687.5
p.R4Q
c.11G>A
1 paper
NM_015687.5
p.S3S
c.9T>G
1 paper
NM_015687.5
p.S3P
c.7T>C
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."