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

2 papers

NM_144997.7

p.T568A

c.1702A>G

Surrounding Variants

5 papers

NM_144997.7

p.T568M

c.1703C>T

1 paper

NM_144997.7

p.T568T

c.1704G>A

2 papers

NM_144997.7

p.S567F

c.1700C>T

1 paper

NM_144997.7

p.M566T

c.1697T>C

1 paper

NM_144997.7

p.R570C

c.1708C>T

1 paper

NM_144997.7

p.M566V

c.1696A>G

2 papers

NM_144997.7

p.R570H

c.1709G>A

3 papers

NM_144997.7

p.V569delFs

c.1707delG

1 paper

NM_144997.7

p.R570fs

c.1708_1709fs

1 paper

NM_144997.7

p.H564delFs

c.1691_1692delGT

1 paper

NM_144997.7

p.H564H

c.1692C>T

1 paper

NM_144997.7

p.H564R

c.1691A>G