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.V563L

c.1687G>C

Surrounding Variants

1 paper

NM_133372.3

p.L548R

c.1643T>G

1 paper

NM_133372.3

p.I578insFs

c.1733_1734insC

1 paper

NM_133372.3

p.S581insFs

c.1741_1742insA

1 paper

NM_133372.3

p.V586A

c.1757T>C

1 paper

NM_133372.3

p.R590T

c.1769G>C

1 paper

NM_133372.3

p.R518Q

c.1553G>A

2 papers

NM_133372.3

p.Q620R

c.1859A>G

1 paper

NM_133372.3

p.Q648R

c.1943A>G

1 paper

NM_133372.3

p.V663fs

c.1987_1988fs

1 paper

NM_133372.3

p.V663delFs

c.1989delA

1 paper

NM_133372.3

p.K664fs

c.1990_1991fs

1 paper

NM_133372.3

p.L670I

c.2008T>A