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.Q118_G119Splc

c.354+12G>A

Surrounding Variants

1 paper

NM_133372.3

p.Q113H

c.339G>T

1 paper

NM_133372.3

p.Q113H

c.339G>C

1 paper

NM_133372.3

p.Q113L

c.338A>T

1 paper

NM_133372.3

p.D112A

c.335A>C

1 paper

NM_133372.3

p.T105A

c.313A>G

1 paper

NM_133372.3

p.S99delFs

c.295_296delGA

1 paper

NM_133372.3

p.S98S

c.294C>T

1 paper

NM_133372.3

p.Q89_L90delFs

c.267_268delGT

3 papers

NM_133372.3

p.G76C

c.226G>T