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

2 papers

NM_144997.7

p.A412Fs

c.1234delinsAGAFs

Surrounding Variants

1 paper

NM_144997.7

p.A412ins1

c.1234_1235insAGA

1 paper

NM_144997.7

p.A412T

c.1234G>A

3 papers

NM_144997.7

p.E411E

c.1233G>A

1 paper

NM_144997.7

p.A412A

c.1236C>T

1 paper

NM_144997.7

p.E411V

c.1232A>T

1 paper

NM_144997.7

p.E411Q

c.1231G>C

1 paper

NM_144997.7

p.E410E

c.1230G>A

1 paper

NM_144997.7

p.Y413C

c.1238A>G

2 papers

NM_144997.7

p.E410*

c.1228G>T

1 paper

NM_144997.7

p.E410K

c.1228G>A

1 paper

NM_144997.7

p.E410fs

c.1228_1229fs

2 papers

NM_144997.7

p.R414W

c.1240C>T