Varaico: Literature-Extracted Genetic Variants

Gene:FNIP2
Variant:p.L1073R

FNIP2

77 papers

RefSeq Summary

This gene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing by regulating the AMP...

Pfam Domains

FNIP_Naa 46–168UCSCFolliculin-interacting protein N-terminus
FNIP_Naa 46–168UCSCFolliculin-interacting protein N-terminus
FNIP_Naa 46–168UCSCFolliculin-interacting protein N-terminus
FNIP_Maa 297–531UCSCFolliculin-interacting protein middle domain
FNIP_Maa 297–531UCSCFolliculin-interacting protein middle domain
FNIP_Caa 927–1110UCSCFolliculin-interacting protein C-terminus

Gene Aliases

HGNC Name

folliculin interacting protein 2

HGNC Alias Symbols

KIAA1450; FNIPL; MAPO1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020840.3
p.L1073R
c.3218T>G
Surrounding Variants
1 paper
NM_020840.3
p.L1059V
c.3175C>G
2 papers
NM_020840.3
p.W1004L
c.3011G>T
1 paper
NM_020840.3
p.L1113F
c.3337C>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."