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.R446fs

c.1336_1337fs

Surrounding Variants

4 papers

NM_144997.7

p.R446C

c.1336C>T

1 paper

NM_144997.7

p.R446G

c.1336C>G

1 paper

NM_144997.7

p.A445delFs

c.1335delT

4 papers

NM_144997.7

p.R446H

c.1337G>A

1 paper

NM_144997.7

p.A445insFs

c.1334dupC

3 papers

NM_144997.7

p.E440_A445insFs

c.1318_1334dup17

1 paper

NM_144997.7

p.R446fs

c.1336_1337fs

1 paper

NM_144997.7

p.R446R

c.1338T>C

1 paper

NM_144997.7

p.A445S

c.1333G>T

1 paper

NM_144997.7

p.A444_A445insFs

c.1332_1333insC

2 papers

NM_144997.7

p.A443_A444insFs

c.1329_1332dup4

18 papers

NM_144997.7

p.A445T

c.1333G>A