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.E464K

c.1390G>A

Surrounding Variants

2 papers

NM_144997.7

p.E464*

c.1390G>T

1 paper

NM_144997.7

p.Y463Y

c.1389C>T

16 papers

NM_144997.7

p.Y463*

c.1389C>G

12 papers

NM_144997.7

p.Y463*

c.1389C>A

1 paper

NM_144997.7

p.E464E

c.1392G>A

1 paper

NM_144997.7

p.E464insFs

c.1392dupG

5 papers

NM_144997.7

p.Y463H

c.1387T>C

2 papers

NM_144997.7

p.K462M

c.1385A>T

1 paper

NM_144997.7

p.K462R

c.1385A>G

1 paper

NM_144997.7

p.V466M

c.1396G>A

1 paper

NM_144997.7

p.K462_Y463insC

c.1384_1388ins3

1 paper

NM_144997.7

p.V466A

c.1397T>C