Varaico: Literature-Extracted Genetic Variants

Gene:FNIP1
Variant:p.V927I

FNIP1

102 papers

RefSeq Summary

This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism ...

Pfam Domains

FNIP_Naa 41–159UCSCFolliculin-interacting protein N-terminus
FNIP_Maa 316–549UCSCFolliculin-interacting protein middle domain
FNIP_Caa 931–1117UCSCFolliculin-interacting protein C-terminus

Gene Aliases

HGNC Name

folliculin interacting protein 1

HGNC Alias Symbol

KIAA1961

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133372.3
p.V927I
c.2779G>A
Surrounding Variants
1 paper
NM_133372.3
p.I925N
c.2774T>A
1 paper
NM_133372.3
p.T929N
c.2786C>A
1 paper
NM_133372.3
p.K918_E919delFs
c.2753_2756del4
1 paper
NM_133372.3
p.K918fs
c.2752_2753fs
1 paper
NM_133372.3
p.P914R
c.2741C>G
1 paper
NM_133372.3
p.D904E
c.2712C>G
1 paper
NM_133372.3
p.D904E
c.2712C>A
1 paper
NM_133372.3
p.R957I
c.2870G>T
1 paper
NM_133372.3
p.G964E
c.2891G>A
1 paper
NM_133372.3
p.F884_K886del3
c.2650_2657del9
1 paper
NM_133372.3
p.E883delFs
c.2648_2649delTT
1 paper
NM_133372.3
p.A971S
c.2911G>T
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