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

4 papers

NM_144997.7

p.D476insFs

c.1426dupG

Surrounding Variants

1 paper

NM_144997.7

p.D476G

c.1427A>G

1 paper

NM_144997.7

p.D476D

c.1428C>T

3 papers

NM_144997.7

p.D476E

c.1428C>G

4 papers

NM_144997.7

p.D476E

c.1428C>A

33 papers

NM_144997.7

p.R477*

c.1429C>T

2 papers

NM_144997.7

p.R477Q

c.1430G>A

1 paper

NM_144997.7

p.A475S

c.1423G>T

1 paper

NM_144997.7

p.A475T

c.1423G>A

4 papers

NM_144997.7

p.V478Splc

c.1432+1G>T

2 papers

NM_144997.7

p.V478Splc

c.1432+1G>C

9 papers

NM_144997.7

p.V478Splc

c.1432+1G>A

1 paper

NM_144997.7

p.V473V

c.1419A>C