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.Q217*

c.649C>T

Surrounding Variants

1 paper

NM_144997.7

p.Q217E

c.649C>G

1 paper

NM_144997.7

p.P216L

c.647C>T

1 paper

NM_144997.7

p.P216Q

c.647C>A

1 paper

NM_144997.7

p.R218L

c.653G>T

3 papers

NM_144997.7

p.R218H

c.653G>A

1 paper

NM_144997.7

p.C215C

c.645C>T

1 paper

NM_144997.7

p.C215*

c.645C>A

1 paper

NM_144997.7

p.C215F

c.644G>T

1 paper

NM_144997.7

p.C215Y

c.644G>A

1 paper

NM_144997.7

p.A219fs

c.655_656fs

2 papers

NM_144997.7

p.A219P

c.655G>C

1 paper

NM_144997.7

p.A219V

c.656C>T