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.V520F

c.1558G>T

Surrounding Variants

1 paper

NM_020840.3

p.T522N

c.1565C>A

1 paper

NM_020840.3

p.S528Y

c.1583C>A

1 paper

NM_020840.3

p.K511R

c.1532A>G

1 paper

NM_020840.3

p.K509R

c.1526A>G

2 papers

NM_020840.3

p.G539R

c.1615G>C

1 paper

NM_020840.3

p.V499L

c.1495G>T

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

1 paper

NM_020840.3

p.E564A

c.1691A>C

1 paper

NM_020840.3

p.A587S

c.1759G>T

1 paper

NM_020840.3

p.E603K

c.1807G>A