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.I180N

c.539T>A

Surrounding Variants

1 paper

NM_144997.7

p.I180L

c.538A>C

1 paper

NM_144997.7

p.R179delFs

c.537delC

1 paper

NM_144997.7

p.R179L

c.536G>T

1 paper

NM_144997.7

p.R179Q

c.536G>A

9 papers

NM_144997.7

p.R179W

c.535C>T

1 paper

NM_144997.7

p.Y181*

c.543C>G

1 paper

NM_144997.7

p.Y181*

c.543C>A

1 paper

NM_144997.7

p.R179R

c.535C>A

1 paper

NM_144997.7

p.L182F

c.544C>T

1 paper

NM_144997.7

p.L182P

c.545T>C

3 papers

NM_144997.7

p.L182delFs

c.544delG

1 paper

NM_144997.7

p.D178V

c.533A>T