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.K203*

c.607A>T

Surrounding Variants

1 paper

NM_144997.7

p.G202G

c.606C>T

2 papers

NM_144997.7

p.G202delFs

c.605delC

1 paper

NM_144997.7

p.G202A

c.605G>C

1 paper

NM_144997.7

p.K203K

c.609G>A

1 paper

NM_144997.7

p.G202D

c.605G>A

1 paper

NM_144997.7

p.A204S

c.610G>T

2 papers

NM_144997.7

p.A204T

c.610G>A

1 paper

NM_144997.7

p.G202S

c.604G>A

1 paper

NM_144997.7

p.Q201H

c.603G>T

1 paper

NM_144997.7

p.Q201H

c.603G>C

1 paper

NM_144997.7

p.Q201Q

c.603G>A

2 papers

NM_144997.7

p.Q201delFs

c.602delT