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

3 papers

NM_144997.7

p.L518fs

c.1552_1553fs

Surrounding Variants

1 paper

NM_144997.7

p.L518I

c.1552C>A

2 papers

NM_144997.7

p.L518delFs

c.1552delG

1 paper

NM_144997.7

p.V517V

c.1551G>T

1 paper

NM_144997.7

p.F519L

c.1555T>C

2 papers

NM_144997.7

p.F519fs

c.1555_1556fs

1 paper

NM_144997.7

p.V517L

c.1549G>C

1 paper

NM_144997.7

p.V517M

c.1549G>A

1 paper

NM_144997.7

p.K516K

c.1548G>A

1 paper

NM_144997.7

p.F519L

c.1557T>G

1 paper

NM_144997.7

p.F519L

c.1557T>A

3 papers

NM_144997.7

p.K516*

c.1546A>T

6 papers

NM_144997.7

p.F519delFs

c.1557delA