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

3 papers

NM_144997.7

p.Q425R

c.1274A>G

Surrounding Variants

2 papers

NM_144997.7

p.Q425*

c.1273C>T

1 paper

NM_144997.7

p.Q425K

c.1273C>A

1 paper

NM_144997.7

p.V424V

c.1272G>T

1 paper

NM_144997.7

p.I426F

c.1276A>T

1 paper

NM_144997.7

p.I426insFs

c.1277_1278insC

2 papers

NM_144997.7

p.I426T

c.1277T>C

1 paper

NM_144997.7

p.V424A

c.1271T>C

1 paper

NM_144997.7

p.V424M

c.1270G>A

2 papers

NM_144997.7

p.I426I

c.1278C>T

2 papers

NM_144997.7

p.I426insFs

c.1277dupT

3 papers

NM_144997.7

p.H423H

c.1269C>T

1 paper

NM_144997.7

p.P427A

c.1279C>G