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.F142L

c.426C>G

Surrounding Variants

1 paper

NM_144997.7

p.F142L

c.426C>A

1 paper

NM_144997.7

p.F143L

c.427T>C

1 paper

NM_144997.7

p.F142L

c.424T>C

1 paper

NM_144997.7

p.F143F

c.429C>T

1 paper

NM_144997.7

p.F143L

c.429C>G

1 paper

NM_144997.7

p.I141M

c.423C>G

1 paper

NM_144997.7

p.I141fs

c.421_422fs

1 paper

NM_144997.7

p.F143L

c.429C>A

1 paper

NM_144997.7

p.I141I

c.423C>A

1 paper

NM_144997.7

p.I141S

c.422T>G

2 papers

NM_144997.7

p.G144R

c.430G>C

2 papers

NM_144997.7

p.G144R

c.430G>A