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.A443S

c.1327G>T

Surrounding Variants

2 papers

NM_144997.7

p.A443T

c.1327G>A

1 paper

NM_144997.7

p.H442delFs

c.1326delG

1 paper

NM_144997.7

p.A443V

c.1328C>T

1 paper

NM_144997.7

p.H442H

c.1326C>T

1 paper

NM_144997.7

p.H442fs

c.1324_1325fs

1 paper

NM_144997.7

p.H442L

c.1325A>T

1 paper

NM_144997.7

p.H442R

c.1325A>G

4 papers

NM_144997.7

p.A444S

c.1330G>T

1 paper

NM_144997.7

p.A444T

c.1330G>A

1 paper

NM_144997.7

p.H442Y

c.1324C>T

1 paper

NM_144997.7

p.H442fs

c.1324_1325fs

5 papers

NM_144997.7

p.V441Fs

c.1323delinsGAFs