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.Q167H

c.501G>C

Surrounding Variants

1 paper

NM_144997.7

p.Q167H

c.501G>T

5 papers

NM_144997.7

p.R168C

c.502C>T

1 paper

NM_144997.7

p.Q167insFs

c.499_500ins10

4 papers

NM_144997.7

p.R168H

c.503G>A

13 papers

NM_144997.7

p.Q167*

c.499C>T

1 paper

NM_144997.7

p.Q167E

c.499C>G

1 paper

NM_144997.7

p.F166L

c.498C>G

1 paper

NM_144997.7

p.F166L

c.498C>A

1 paper

NM_144997.7

p.F166L

c.496T>C

4 papers

NM_144997.7

p.W169*

c.506G>A

4 papers

NM_144997.7

p.W169*

c.507G>A

1 paper

NM_144997.7

p.G165G

c.495C>T