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.Q232_G235delFs

c.696_705del10

Surrounding Variants

1 paper

NM_144997.7

p.N236S

c.707A>G

1 paper

NM_144997.7

p.N236N

c.708C>T

1 paper

NM_144997.7

p.G235R

c.703G>C

5 papers

NM_144997.7

p.G235S

c.703G>A

1 paper

NM_144997.7

p.A237T

c.709G>A

1 paper

NM_144997.7

p.A237A

c.711C>T

1 paper

NM_144997.7

p.N234S

c.701A>G

2 papers

NM_144997.7

p.A238T

c.712G>A

1 paper

NM_144997.7

p.N234D

c.700A>G

3 papers

NM_144997.7

p.A238V

c.713C>T

1 paper

NM_144997.7

p.R233K

c.698G>A

1 paper

NM_144997.7

p.A238A

c.714C>A