Varaico: Literature-Extracted Genetic Variants

FNIP1

102 papers

RefSeq Summary

This gene encodes a protein that binds to the tumor suppressor protein folliculin and to AMP-activated protein kinase (AMPK). The encoded protein participates in the regulation of cellular metabolism ...

Pfam Domains

FNIP_Naa 41–159UCSCFolliculin-interacting protein N-terminus

FNIP_Maa 316–549UCSCFolliculin-interacting protein middle domain

FNIP_Caa 931–1117UCSCFolliculin-interacting protein C-terminus

Gene Aliases

HGNC Name

folliculin interacting protein 1

HGNC Alias Symbol

KIAA1961

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133372.3

p.K664fs

c.1990_1991fs

Surrounding Variants

1 paper

NM_133372.3

p.V663delFs

c.1989delA

1 paper

NM_133372.3

p.V663fs

c.1987_1988fs

1 paper

NM_133372.3

p.L670I

c.2008T>A

1 paper

NM_133372.3

p.Q648R

c.1943A>G

1 paper

NM_133372.3

p.E703fs

c.2107_2108fs

1 paper

NM_133372.3

p.E703fs

c.2107_2108fs

2 papers

NM_133372.3

p.Q620R

c.1859A>G

1 paper

NM_133372.3

p.E730G

c.2189A>G

1 paper

NM_133372.3

p.K732fs

c.2194_2195fs

1 paper

NM_133372.3

p.K732insFs

c.2196dupA

1 paper

NM_133372.3

p.K732delFs

c.2196delT

1 paper

NM_133372.3

p.P733fs

c.2197_2198fs