Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1
Variant:p.T348N

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.T348N
c.1043C>A
Surrounding Variants
1 paper
NM_015687.5
p.T348T
c.1044C>A
1 paper
NM_015687.5
p.N349K
c.1047C>G
1 paper
NM_015687.5
p.N349K
c.1047C>A
1 paper
NM_015687.5
p.S326F
c.977C>T
1 paper
NM_001289987.3
p.L386F
c.1156C>T
1 paper
NM_015687.5
p.R384*
c.1150C>T
2 papers
NM_015687.5
p.R386C
c.1156C>T
1 paper
NM_015687.5
p.A307P
c.919G>C
1 paper
NM_015687.5
p.E391K
c.1171G>A
1 paper
NM_015687.5
p.D394G
c.1181A>G
1 paper
NM_015687.5
p.E396E
c.1188G>A
1 paper
NM_015687.5
p.E401Q
c.1201G>C
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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."