Varaico: Literature-Extracted Genetic Variants

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_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.R130*

c.388A>T

Surrounding Variants

1 paper

NM_020840.3

p.S145L

c.434C>T

1 paper

NM_020840.3

p.K156insFs

c.467dupA

1 paper

NM_020840.3

p.I157T

c.470T>C

1 paper

NM_020840.3

p.P124P

c.372A>G

1 paper

NM_020840.3

p.K120E

c.358A>G

1 paper

NM_020840.3

p.S116_Q122del7

c.346_365del21

1 paper

NM_020840.3

p.G114V

c.341G>T

1 paper

NM_020840.3

p.S111Y

c.332C>A

2 papers

NM_020840.3

p.S111A

c.331T>G

1 paper

NM_020840.3

p.S102R

c.306C>G

1 paper

NM_020840.3

p.R241Q

c.722G>A

1 paper

NM_020840.3

p.R241P

c.722G>C