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.C399C

c.1197C>T

Surrounding Variants

12 papers

NM_144997.7

p.V400I

c.1198G>A

1 paper

NM_144997.7

p.C399Y

c.1196G>A

3 papers

NM_144997.7

p.V400A

c.1199T>C

2 papers

NM_144997.7

p.L395_V400delFs

c.1183_1198del16

1 paper

NM_144997.7

p.G398G

c.1194C>T

1 paper

NM_144997.7

p.V400V

c.1200C>G

1 paper

NM_144997.7

p.G398A

c.1193G>C

2 papers

NM_144997.7

p.R401C

c.1201C>T

3 papers

NM_144997.7

p.R401H

c.1202G>A

1 paper

NM_144997.7

p.V397M

c.1189G>A

1 paper

NM_144997.7

p.P396P

c.1188C>T

1 paper

NM_144997.7

p.P404S

c.1210C>T