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

2 papers

NM_144997.7

p.E211Fs

c.632_633delinsCFs

Surrounding Variants

1 paper

NM_144997.7

p.E211D

c.633G>T

1 paper

NM_144997.7

p.E211D

c.633G>C

5 papers

NM_144997.7

p.Q212*

c.634C>T

1 paper

NM_144997.7

p.Q212K

c.634C>A

1 paper

NM_144997.7

p.E211V

c.632A>T

1 paper

NM_144997.7

p.E211A

c.632A>C

1 paper

NM_144997.7

p.E211*

c.631G>T

1 paper

NM_144997.7

p.E211K

c.631G>A

1 paper

NM_144997.7

p.A210_E211Fs

c.630_631delinsCFs

1 paper

NM_144997.7

p.E211fs

c.631_632fs

1 paper

NM_144997.7

p.Q212H

c.636G>C

1 paper

NM_144997.7

p.F213L

c.637T>C