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.K559K

c.1677G>A

Surrounding Variants

1 paper

NM_144997.7

p.K559N

c.1677G>T

1 paper

NM_144997.7

p.K559N

c.1677G>C

1 paper

NM_144997.7

p.T560I

c.1679C>T

1 paper

NM_144997.7

p.T560ins7

c.1679_1680ins21

1 paper

NM_144997.7

p.L557delFs

c.1670delA

1 paper

NM_144997.7

p.K562E

c.1684A>G

1 paper

NM_144997.7

p.L557fs

c.1669_1670fs

2 papers

NM_144997.7

p.K562R

c.1685A>G

1 paper

NM_144997.7

p.G556V

c.1667G>T

1 paper

NM_144997.7

p.G556A

c.1667G>C

1 paper

NM_144997.7

p.S563S

c.1689A>G

1 paper

NM_144997.7

p.H564fs

c.1690_1691fs