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.Q220R

c.659A>G

Surrounding Variants

4 papers

NM_144997.7

p.Q220*

c.658C>T

1 paper

NM_144997.7

p.Q220E

c.658C>G

1 paper

NM_144997.7

p.A219fs

c.655_656fs

1 paper

NM_144997.7

p.A219delFs

c.656delG

1 paper

NM_144997.7

p.A219V

c.656C>T

1 paper

NM_144997.7

p.A219G

c.656C>G

4 papers

NM_144997.7

p.A219insFs

c.655dupG

1 paper

NM_144997.7

p.A219fs

c.655_656fs

2 papers

NM_144997.7

p.A219P

c.655G>C

3 papers

NM_144997.7

p.M222fs

c.664_665fs

3 papers

NM_144997.7

p.R221insFs

c.663dupG

1 paper

NM_144997.7

p.R218L

c.653G>T