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.H148L

c.443A>T

Surrounding Variants

1 paper

NM_144997.7

p.H148P

c.443A>C

2 papers

NM_144997.7

p.H148H

c.444C>T

1 paper

NM_144997.7

p.H148Q

c.444C>G

1 paper

NM_144997.7

p.H148Q

c.444C>A

1 paper

NM_144997.7

p.G149C

c.445G>T

2 papers

NM_144997.7

p.G149S

c.445G>A

1 paper

NM_144997.7

p.E146D

c.438G>T

1 paper

NM_144997.7

p.E146G

c.437A>G

2 papers

NM_144997.7

p.F150F

c.450T>C

1 paper

NM_144997.7

p.E146K

c.436G>A

1 paper

NM_144997.7

p.V151L

c.451G>T

1 paper

NM_144997.7

p.V151M

c.451G>A