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

1–12 of 120 variants

3 papers

NM_133372.3

p.G76C

c.226G>T

2 papers

NM_133372.3

p.R290*

c.868C>T

2 papers

NM_133372.3

p.W305Splc

c.914+2T>G

2 papers

NM_133372.3

p.Q620R

c.1859A>G

2 papers

NM_133372.3

p.L1073delFs

c.3218delA

2 papers

NM_133372.3

p.F1102_C1103Splc

c.3306+1G>A

1 paper

NM_133372.3

p.G15V

c.44G>T

1 paper

NM_133372.3

p.A18_D22insFs

c.52_64dup13

1 paper

NM_133372.3

p.S31Splc

c.92+8G>A

1 paper

NM_133372.3

p.F37L

c.109T>C

1 paper

NM_133372.3

p.F37L

c.111T>G

1 paper

NM_133372.3

p.F37L

c.111T>A