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.T573R

c.1718C>G

Surrounding Variants

2 papers

NM_144997.7

p.T573I

c.1718C>T

1 paper

NM_144997.7

p.T573insFs

c.1718_1719insA

1 paper

NM_144997.7

p.T573S

c.1717A>T

1 paper

NM_144997.7

p.A574V

c.1721C>T

1 paper

NM_144997.7

p.P572S

c.1714C>T

3 papers

NM_144997.7

p.S575L

c.1724C>T

1 paper

NM_144997.7

p.S575S

c.1725G>A

1 paper

NM_144997.7

p.R570fs

c.1708_1709fs

2 papers

NM_144997.7

p.R570H

c.1709G>A

3 papers

NM_144997.7

p.V569delFs

c.1707delG

1 paper

NM_144997.7

p.R570C

c.1708C>T

1 paper

NM_144997.7

p.S577A

c.1729T>G