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.I460fs

c.1378_1379fs

Surrounding Variants

1 paper

NM_020840.3

p.K461R

c.1382A>G

1 paper

NM_020840.3

p.K466R

c.1397A>G

1 paper

NM_020840.3

p.S469F

c.1406C>T

1 paper

NM_020840.3

p.H445Y

c.1333C>T

1 paper

NM_020840.3

p.K430R

c.1289A>G

1 paper

NM_020840.3

p.N429insFs

c.1285_1286insC

1 paper

NM_020840.3

p.E420K

c.1258G>A

1 paper

NM_020840.3

p.K419R

c.1256A>G

1 paper

NM_020840.3

p.K410R

c.1229A>G

1 paper

NM_020840.3

p.W387C

c.1161G>C

1 paper

NM_020840.3

p.G384_W387delFs

c.1150_1160del11

1 paper

NM_020840.3

p.L375L

c.1125G>A