Varaico: Literature-Extracted Genetic Variants

FLCN

815 papers

RefSeq Summary

This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal t...

Pfam Domains

Folliculinaa 104–265UCSCVesicle coat protein involved in Golgi to plasma membrane transport

Folliculin_Caa 344–566UCSCFolliculin C-terminal domain

Gene Aliases

HGNC Name

folliculin

HGNC Alias Symbols

BHD; MGC17998; MGC23445; DENND8B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144997.7

p.C134W

c.402C>G

Surrounding Variants

1 paper

NM_144997.7

p.P135fs

c.403_404fs

5 papers

NM_144997.7

p.P135delFs

c.404delG

1 paper

NM_144997.7

p.V133G

c.398T>G

6 papers

NM_144997.7

p.E132_V133Splc

c.397-1G>C

2 papers

NM_144997.7

p.R137C

c.409C>T

1 paper

NM_144997.7

p.R137G

c.409C>G

2 papers

NM_144997.7

p.E132_V133Splc

c.397-2A>C

1 paper

NM_144997.7

p.R137L

c.410G>T

1 paper

NM_144997.7

p.R137P

c.410G>C

3 papers

NM_144997.7

p.R137insFs

c.410dupG

1 paper

NM_144997.7

p.G139R

c.415G>C

1 paper

NM_144997.7

p.G139D

c.416G>A