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.P691A

c.2071C>G

Surrounding Variants

1 paper

NM_020840.3

p.P704H

c.2111C>A

1 paper

NM_020840.3

p.K676N

c.2028G>C

1 paper

NM_020840.3

p.K676N

c.2028G>T

1 paper

NM_020840.3

p.G650V

c.1949G>T

1 paper

NM_020840.3

p.R734H

c.2201G>A

1 paper

NM_020840.3

p.R741W

c.2221C>T

1 paper

NM_020840.3

p.D615N

c.1843G>A

1 paper

NM_020840.3

p.E603K

c.1807G>A

1 paper

NM_020840.3

p.E785Q

c.2353G>C

1 paper

NM_020840.3

p.K793N

c.2379G>C

1 paper

NM_020840.3

p.K793N

c.2379G>T

1 paper

NM_020840.3

p.A587S

c.1759G>T