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.L549delFs

c.1647delC

Surrounding Variants

2 papers

NM_144997.7

p.L550P

c.1649T>C

1 paper

NM_144997.7

p.L550L

c.1650G>T

1 paper

NM_144997.7

p.L549L

c.1645C>T

4 papers

NM_144997.7

p.L549V

c.1645C>G

1 paper

NM_144997.7

p.K551*

c.1651A>T

1 paper

NM_144997.7

p.K551Q

c.1651A>C

2 papers

NM_144997.7

p.K548N

c.1644G>T

2 papers

NM_144997.7

p.K548N

c.1644G>C

1 paper

NM_144997.7

p.K551_F552insFs

c.1653_1654insTG

1 paper

NM_144997.7

p.K551_F552ins1

c.1653_1654insTGA

2 papers

NM_144997.7

p.K551K

c.1653G>A

1 paper

NM_144997.7

p.F552fs

c.1654_1655fs