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

25 papers

NM_144997.7

p.L449_P451insFs

c.1347_1353dup7

Surrounding Variants

2 papers

NM_144997.7

p.V452M

c.1354G>A

1 paper

NM_144997.7

p.V452fs

c.1354_1355fs

1 paper

NM_144997.7

p.P451fs

c.1351_1352fs

1 paper

NM_144997.7

p.P451delFs

c.1352delG

1 paper

NM_144997.7

p.V452V

c.1356G>A

2 papers

NM_144997.7

p.A445_P451insFs

c.1335_1351dup17

2 papers

NM_144997.7

p.P451H

c.1352C>A

1 paper

NM_144997.7

p.G453W

c.1357G>T

1 paper

NM_144997.7

p.P451S

c.1351C>T

1 paper

NM_144997.7

p.V452ins1

c.1354_1355insGTG

1 paper

NM_144997.7

p.G453E

c.1358G>A

1 paper

NM_144997.7

p.H450H

c.1350C>T