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.R578insFs

c.1733_1734insCC

Surrounding Variants

29 papers

NM_144997.7

p.R578insFs

c.1733_1734insC

4 papers

NM_144997.7

p.R578Q

c.1733G>A

1 paper

NM_144997.7

p.R578R

c.1734G>A

1 paper

NM_144997.7

p.R578W

c.1732C>T

1 paper

NM_144997.7

p.S577A

c.1729T>G

1 paper

NM_144997.7

p.S577P

c.1729T>C

1 paper

NM_144997.7

p.N579N

c.1737C>T

1 paper

NM_144997.7

p.*580C

c.1740A>T

1 paper

NM_144997.7

p.S575S

c.1725G>A

3 papers

NM_144997.7

p.S575L

c.1724C>T

1 paper

NM_144997.7

p.A574V

c.1721C>T

2 papers

NM_144997.7

p.T573I

c.1718C>T