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.L550_W553delFs

c.1648_1658del11

Surrounding Variants

1 paper

NM_144997.7

p.W553*

c.1659G>A

4 papers

NM_144997.7

p.W553*

c.1658G>A

1 paper

NM_144997.7

p.M554V

c.1660A>G

1 paper

NM_144997.7

p.W553insFs

c.1657_1658insC

1 paper

NM_144997.7

p.T555A

c.1663A>G

1 paper

NM_144997.7

p.F552fs

c.1654_1655fs

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.G556V

c.1667G>T

1 paper

NM_144997.7

p.G556A

c.1667G>C

1 paper

NM_144997.7

p.K551*

c.1651A>T