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.P187P

c.561C>A

Surrounding Variants

3 papers

NM_144997.7

p.F188I

c.562T>A

2 papers

NM_144997.7

p.F188fs

c.562_563fs

1 paper

NM_144997.7

p.P187T

c.559C>A

1 paper

NM_144997.7

p.W186C

c.558G>C

1 paper

NM_144997.7

p.F188L

c.564C>A

3 papers

NM_144997.7

p.F188delFs

c.563delA

1 paper

NM_144997.7

p.L189fs

c.565_566fs

1 paper

NM_144997.7

p.L189L

c.565C>T

2 papers

NM_144997.7

p.F188_L189insFs

c.564_565dupCC

1 paper

NM_144997.7

p.L189L

c.567G>A

1 paper

NM_144997.7

p.S185S

c.555C>T

1 paper

NM_144997.7

p.S185S

c.555C>A