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.Q1128H

c.3384G>C

Surrounding Variants

1 paper

NM_133372.3

p.Q1128H

c.3384G>T

1 paper

NM_133372.3

p.G1137A

c.3410G>C

1 paper

NM_133372.3

p.S1118N

c.3353G>A

1 paper

NM_133372.3

p.E1108D

c.3324A>T

1 paper

NM_133372.3

p.E1108D

c.3324A>C

1 paper

NM_133372.3

p.A1152T

c.3454G>A

2 papers

NM_133372.3

p.F1102_C1103Splc

c.3306+1G>A

2 papers

NM_133372.3

p.L1073delFs

c.3218delA

1 paper

NM_133372.3

p.L1073fs

c.3217_3218fs

1 paper

NM_133372.3

p.I1051T

c.3152T>C