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.D289E

c.867T>A

Surrounding Variants

1 paper

NM_020840.3

p.D289E

c.867T>G

1 paper

NM_020840.3

p.T298S

c.893C>G

2 papers

NM_020840.3

p.S301P

c.901T>C

1 paper

NM_020840.3

p.E321A

c.962A>C

1 paper

NM_020840.3

p.E324K

c.970G>A

1 paper

NM_020840.3

p.F332I

c.994T>A

1 paper

NM_020840.3

p.F333I

c.997T>A

1 paper

NM_020840.3

p.L375L

c.1125G>A

1 paper

NM_020840.3

p.G384_W387delFs

c.1150_1160del11

1 paper

NM_020840.3

p.W387C

c.1161G>C

1 paper

NM_020840.3

p.K410R

c.1229A>G

1 paper

NM_020840.3

p.K419R

c.1256A>G