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.W251C

c.753G>T

Surrounding Variants

1 paper

NM_144997.7

p.A252S

c.754G>T

1 paper

NM_144997.7

p.A252T

c.754G>A

3 papers

NM_144997.7

p.A252insFs

c.755dupC

1 paper

NM_144997.7

p.A252A

c.756G>A

2 papers

NM_144997.7

p.C253fs

c.757_758fs

3 papers

NM_144997.7

p.C253Y

c.758G>A

1 paper

NM_144997.7

p.C253fs

c.757_758fs

1 paper

NM_144997.7

p.D247_C253del7

c.739_758del21

3 papers

NM_144997.7

p.L254P

c.761T>C

2 papers

NM_144997.7

p.N249fs

c.745_746fs

12 papers

NM_144997.7

p.H255Y

c.763C>T

1 paper

NM_144997.7

p.H255N

c.763C>A