Varaico: Literature-Extracted Genetic Variants

Gene:FILIP1
Variant:p.R1119W

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.R1119W
c.3355C>T
Surrounding Variants
1 paper
NM_015687.5
p.R1119Q
c.3356G>A
2 papers
NM_015687.5
p.T1126M
c.3377C>T
1 paper
NM_015687.5
p.S1127N
c.3380G>A
1 paper
NM_001289987.3
p.T1133I
c.3398C>T
1 paper
NM_015687.5
p.P1133L
c.3398C>T
1 paper
NM_015687.5
p.N1096S
c.3287A>G
1 paper
NM_015687.5
p.R1093*
c.3277C>T
1 paper
NM_015687.5
p.R1051Q
c.3152G>A
1 paper
NM_015687.5
p.R1051W
c.3151C>T
1 paper
NM_015687.5
p.L1037F
c.3109C>T
1 paper
NM_015687.5
p.P1006S
c.3016C>T
1 paper
NM_015687.5
p.P1003S
c.3007C>T
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