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.G470E

c.1409G>A

Surrounding Variants

1 paper

NM_144997.7

p.G470V

c.1409G>T

1 paper

NM_144997.7

p.S459_S469delFs

c.1376_1407del32

1 paper

NM_144997.7

p.S471I

c.1412G>T

8 papers

NM_144997.7

p.S469insFs

c.1405dupA

1 paper

NM_144997.7

p.L460_S469insFs

c.1378_1405dup28

1 paper

NM_144997.7

p.S469T

c.1406G>C

2 papers

NM_144997.7

p.S471N

c.1412G>A

1 paper

NM_144997.7

p.S469fs

c.1405_1406fs

1 paper

NM_144997.7

p.T468T

c.1404C>T

1 paper

NM_144997.7

p.P472A

c.1414C>G

3 papers

NM_144997.7

p.S469_S471del3

c.1405_1412del9

1 paper

NM_144997.7

p.P472H

c.1415C>A