Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1
Variant:p.L1037F

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.L1037F
c.3109C>T
Surrounding Variants
1 paper
NM_015687.5
p.R1051W
c.3151C>T
1 paper
NM_015687.5
p.R1051Q
c.3152G>A
1 paper
NM_015687.5
p.P1006S
c.3016C>T
1 paper
NM_015687.5
p.P1003S
c.3007C>T
1 paper
NM_015687.5
p.R996I
c.2987G>T
1 paper
NM_015687.5
p.P992A
c.2974C>G
1 paper
NM_015687.5
p.R1093*
c.3277C>T
1 paper
NM_015687.5
p.N1096S
c.3287A>G
1 paper
NM_015687.5
p.R976Q
c.2927G>A
1 paper
NM_015687.5
p.R976G
c.2926C>G
1 paper
NM_015687.5
p.Q965K
c.2893C>A
1 paper
NM_015687.5
p.R1119W
c.3355C>T
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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."