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.E199V

c.596A>T

Surrounding Variants

1 paper

NM_144997.7

p.E199delFs

c.595delC

1 paper

NM_144997.7

p.D198_E199del1

c.594_596delTCA

1 paper

NM_144997.7

p.L200F

c.598C>T

1 paper

NM_144997.7

p.L200I

c.598C>A

2 papers

NM_144997.7

p.L200P

c.599T>C

1 paper

NM_144997.7

p.D198H

c.592G>C

4 papers

NM_144997.7

p.D198N

c.592G>A

4 papers

NM_144997.7

p.Q201*

c.601C>T

1 paper

NM_144997.7

p.I197I

c.591C>T

1 paper

NM_144997.7

p.I197M

c.591C>G

1 paper

NM_144997.7

p.Q201R

c.602A>G

2 papers

NM_144997.7

p.Q201P

c.602A>C