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

1–12 of 77 variants

2 papers

NM_020840.3

p.S111A

c.331T>G

2 papers

NM_020840.3

p.S301P

c.901T>C

2 papers

NM_020840.3

p.G539R

c.1615G>C

2 papers

NM_020840.3

p.S551R

c.1651A>C

2 papers

NM_020840.3

p.S551R

c.1653C>A

2 papers

NM_020840.3

p.S551R

c.1653C>G

2 papers

NM_020840.3

p.W1004L

c.3011G>T

1 paper

NM_020840.3

p.L5L

c.15G>A

1 paper

NM_020840.3

p.A34V

c.101C>T

1 paper

NM_020840.3

p.A34A

c.102C>T

1 paper

NM_020840.3

p.C39fs

c.115_116fs

1 paper

NM_020840.3

p.C39_E41delFs

c.116_122del7