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.S263N

c.788G>A

Surrounding Variants

1 paper

NM_133372.3

p.T268insFs

c.802_803insA

1 paper

NM_133372.3

p.I267_T268del1

c.800_802delTGA

1 paper

NM_133372.3

p.I267_T268del2

c.799_803del6

1 paper

NM_133372.3

p.R288C

c.862C>T

2 papers

NM_133372.3

p.R290*

c.868C>T

1 paper

NM_133372.3

p.T295_S296del1

c.884_886delTTG

1 paper

NM_133372.3

p.T295_S296del2

c.883_887del6

2 papers

NM_133372.3

p.W305Splc

c.914+2T>G

1 paper

NM_133372.3

p.S337*

c.1010C>G

1 paper

NM_133372.3

p.S337*

c.1010C>A

1 paper

NM_133372.3

p.S354L

c.1061C>T

1 paper

NM_133372.3

p.H355R

c.1064A>G