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.L483fs

c.1447_1448fs

Surrounding Variants

1 paper

NM_144997.7

p.L483L

c.1447C>T

2 papers

NM_144997.7

p.K485R

c.1454A>G

1 paper

NM_144997.7

p.I482V

c.1444A>G

1 paper

NM_144997.7

p.I486fs

c.1456_1457fs

1 paper

NM_144997.7

p.T481P

c.1441A>C

2 papers

NM_144997.7

p.E487*

c.1459G>T

1 paper

NM_144997.7

p.I486delFs

c.1458delA

1 paper

NM_144997.7

p.P480A

c.1438C>G

1 paper

NM_144997.7

p.A488S

c.1462G>T

1 paper

NM_144997.7

p.A488P

c.1462G>C

1 paper

NM_144997.7

p.A488T

c.1462G>A

1 paper

NM_144997.7

p.G479C

c.1435G>T