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.V207L

c.619G>T

Surrounding Variants

1 paper

NM_144997.7

p.V207M

c.619G>A

10 papers

NM_144997.7

p.K206_V207Splc

c.619-1G>A

1 paper

NM_144997.7

p.F208S

c.623T>C

2 papers

NM_144997.7

p.E209*

c.625G>T

1 paper

NM_144997.7

p.E209ins6

c.625_626ins18

1 paper

NM_144997.7

p.E209Q

c.625G>C

1 paper

NM_144997.7

p.E209K

c.625G>A

1 paper

NM_144997.7

p.A210G

c.629C>G

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